Authors: Husson, ThomasAff1, Aff2, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, CélineAff12, Aff13, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, NicolasAff19, Aff20, Cogné, BenjaminAff21, Aff22, Colin, Estelle, Cormier-Daire, ValérieAff24, Aff25, Dard, Rodolphe, Dauriat, Benjamin, Delanne, JulianAff28, Aff29, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-SophieAff29, Aff31, Depienne, Christel, Dieux, Anne, Dubourg, ChristèleAff33, Aff34, Edery, PatrickAff19, Aff35, El Chehadeh, SalimaAff36, Aff37, Aff38, Faivre, LaurenceAff28, Aff29, Fergelot, Patricia, Fradin, Mélanie, Garde, AuroreAff28, Aff29, Geneviève, DavidAff41, Aff42, Gilbert-Dussardier, Brigitte, Goizet, CyrilAff44, Aff45, Goldenberg, Alice, Gouy, EvanAff19, Aff46, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, BertrandAff21, Aff22, Lacombe, Didier, Le Guillou Horn, XavierAff50, Aff51, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, StanislasAff57, Aff58, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, MathildeAff21, Aff22, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, FlorenceAff15, Aff16, Pingault, VeroniqueAff61, Aff62, Piton, Amélie, Prieur, Fabienne, Putoux, AudreyAff19, Aff35, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, SylviaAff5, Aff64, Aff65, Rama, Mélanie, Rio, Marlène, Rossi, MassimilianoAff19, Aff35, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, ThomasAff16, Aff66, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic TranAff29, Aff31, Trimouille, AurélienAff69, Aff70, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, MarieAff21, Aff22, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, CamilleAff72, IDs4143102301474x_cor98
Superior Title: European Journal of Human Genetics. 32(2):190-199
Authors: Alkhalifa, AbdulrahmanAff1, Aff2, Chen, Shihan, Hasiloglu, Zehra Isik, Filosto, Massimiliano, Cali, Elisa, Houlden, Henry, Sgobbi de Souza, Paulo, Alavi, Afagh, Goizet, CyrilAff7, Aff8, Stevanin, Giovanni, Taithe, Frederic, Nicita, Francesco, Vasco, Gessica, Tozza, Stefano, Cocozza, Sirio, Carboni, Nicola, Figus, Andrea, Wu, JianjunAff16, Aff17, Basak, A. Nazli, Brais, BernardAff1, Aff19, Rouleau, GuyAff1, Aff19, La Piana, RobertaAff1, Aff19, Aff20, IDs00415023119185_cor22
Superior Title: Journal of Neurology. 270(12):5784-5792
Authors: Kacher, Radhia, Lejeune, François-Xavier, David, Isabelle, Boluda, Susana, Coarelli, Giulia, Leclere-Turbant, Sabrina, Heinzmann, Anna, Marelli, Cecilia, Charles, Perrine, Goizet, Cyril, Kabir, Nisha, Hilab, Rania, Jornea, Ludmila, Six, Julie, Dommergues, Marc, Fauret, Anne-Laure, Brice, Alexis, Humbert, Sandrine, Durr, Alexandra
Superior Title: In The American Journal of Human Genetics 2 May 2024 111(5):913-926
Authors: Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra
Superior Title: In The American Journal of Human Genetics 6 July 2023 110(7):1098-1109
Authors: Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., Philippe, Christophe
Superior Title: In Genetics in Medicine April 2023 25(4)
Authors: Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porché, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant-Maréchal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, Van Broeckhoven, Christine, Brice, Alexis, Durr, Alexandra
Superior Title: In Genetics in Medicine February 2023 25(2)
Authors: Youssov, Katia, Audureau, Etienne, Vandendriessche, Henri, Morgado, Graca, Layese, Richard, Goizet, Cyril, Verny, Christophe, Bourhis, Marie-Laure, Bachoud-Lévi, Anne-Catherine
Superior Title: In Parkinsonism and Related Disorders October 2022 103:77-84
Authors: Angelini, Chloé, Durand, Christelle Marie, Fergelot, Patricia, Deforges, Julie, Vital, Anne, Menegon, Patrice, Sarrazin, Elizabeth, Bellance, Rémi, Mathis, Stéphane, Gonzalez, Victoria, Renaud, Mathilde, Frismand, Solène, Schmitt, Emmanuelle, Rouanet, Marie, Burglen, Lydie, Chabrol, Brigitte, Desnous, Béatrice, Arveiler, Benoît, Stevanin, Giovanni, Coupry, Isabelle, Goizet, Cyril
Contributors: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Superior Title: ISSN: 0885-3185.
Subject Terms: mosaicism, C19orf12, NBIA, autosomal dominant MPAN, late-onset MPAN, MESH: Iron / metabolism, MESH: Membrane Proteins / genetics, MESH: Mitochondrial Proteins / genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/37605305; hal-04397348; https://hal.science/hal-04397348; https://hal.science/hal-04397348/document; https://hal.science/hal-04397348/file/Autosomal%20Dominant%20MPAN%20Mosaicism%20Expands%20the%20Clinical%20Spectrum%20to%20Atypical%20Late%E2%80%90Onset%20Phenotypes.pdf; PUBMED: 37605305
Authors: Mirchi, Amytice, Guay, Simon Pierre, Tran, Luan T., Wolf, Nicole I., Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez-Solana, Luis, Thiffault, Isabelle, Kruer, Michael C., Moron, Dolores Gonzales, Kauffman, Marcelo, Goizet, Cyril, Sztriha, Lászlo, Glamuzina, Emma, Melançon, Serge B., Naidu, Sakkubai, Retrouvey, Jean Marc, Lacombe, Suzanne, Bernardino-Cuesta, Beatriz, De Bie, Isabelle, Bernard, Geneviève
Superior Title: Mirchi , A , Guay , S P , Tran , L T , Wolf , N I , Vanderver , A , Brais , B , Sylvain , M , Pohl , D , Rossignol , E , Saito , M , Moutton , S , González-Gutiérrez-Solana , L , Thiffault , I , Kruer , M C , Moron , D G , Kauffman , M , Goizet , C , Sztriha , L , Glamuzina , E , Melançon , S B , Naidu , S , Retrouvey , J M , Lacombe , S , ....
Authors: Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Vitobello, Antonio, Vissers, Lisenka E. L. M., Faivre, Laurence, Abbott, Kristin M., Kerstjens, Mieke, Martín, Estrella López, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A. C., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W. E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves
Contributors: Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yanni, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Luka, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Vitobello, Antonio, Vissers, Lisenka E. L. M., Faivre, Laurence, Abbott, Kristin M., Kerstjens, Mieke, Martín, Estrella López, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba
Subject Terms: ClinVar, Developmental disorder, Exome reanalysi, Rare diseases
File Description: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/36681873; info:eu-repo/semantics/altIdentifier/wos/WOS:001000649600001; volume:25; issue:4; firstpage:100018-1; lastpage:100018-15; numberofpages:15; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11392/2543290; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152173255; https://www.gimjournal.org/article/S1098-3600(23)00024-2/fulltext
Availability:
https://doi.org/10.1016/j.gim.2023.100018
https://hdl.handle.net/11392/2543290
https://www.gimjournal.org/article/S1098-3600(23)00024-2/fulltext
Authors: Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, de Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothee, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, de Vivo, Darryl, C, An, Isabelle, Bailly, Laurent, Bendetowicz, David, Charles, Perrine, Delorme, Cécile, Demeret, Sophie, Giron, Camille, Heide, Solveig, Heinzmann, Anna, Lalaude, Mathilde, Méneret, Aurélie, Mezouar, Nicolas, Monin, Marie-Lorraine, Mouthon, Linda, Roze, Emmanuel, Tarrano, Clément, Villain, Nicolas, Yazbeck, Elise, Auvin, Stéphane, Da Costa, Lydie, Dozières, Blandine, Portes, Vincent Des, Gokce-Samar, Zeynep, Panagiotakaki, Eleni, Souci, Sabrine, Toulouse, Joseph, Bellesme, Céline, Maurey, Hélène, Salah, Lucie, de Villemeur, Thierry Billette, Garzon, Pauline, Héron, Bénédicte, Isapof, Arnaud, Nougues, Marie-Christine, Ravelli, Claudia, Renaldo, Florence, Rodriguez, Diana, Valence, Stéphanie, Dangles, Marie-Thérèse, de Lonlay, Pascale, Desguerre, Isabelle, Durrleman, Chloé, Hully, Marie, Albertini, Francesca, Cano, Aline, Chabrol, Brigitte, Chavany, Julie, Kaphan, Elsa, Lagarde, Stanislas, Villeneuve, Nathalie, Avez-Couturier, Justine, Chaton, Laurence, Cuvellier, Jean-Christophe, Dehak, Rabha, Ballay, Florence Flamein, Floret, Valentine, Remérand, Ganaëlle, Abi Warde, Marie-Thérèse, Anheim, Mathieu, de Feraudy, Yvan, Gebus, Odile, Perriard, Caroline, Spitz, Marie-Aude, Khalil, Mirna, Tosi, Cécilia Marelli, Alvarez, Blanca Mercedes, Meyer, Pierre, Valle, Sarai Urtiaga, Canon, Mathilde, Ioos, Christine, Espil, Caroline, Husson, Marie, Goizet, Cyril, Michaud, Vincent, Pedespan, Jean-Michel, Damaj, Léna, Hadjadj, Sarah, Lavillaureix, Alinoë, Lepage, Jean-Marie, Ugolin, Mélissa, Froget, Rachel, Laroche, Cécile, Cancès, Claude, Salel, Yu Jin, Viguier, Agnès, Mazzola, Laure, Perrin, Laurine, Besson, Gérard, Dubois, Fanny, Lametery, Elodie, Jacquet, Coralie, de Pontual, Loïc, Castelnau, Pierre, Lagrue, Emmanuelle, Gibaud, Marc, Chouchane, Mondher, Darmency, Véronique, Fatus, Clémence Fauconnier, Bilbault, Claire, Cullier, Anne Charlotte, Mekary, Jacinthe, Touhami, Jawida, Baer, Marie-Elodie, Litou, Nadine, Samaan, Simon, Béesau, Christophe, Bitaudeau, Floriane, Cousin, Christelle, Desport, Elodie, Djouadi, Lynda, Hamadi, Yasmine, Lebreton, Emeline, Moriceau, Sandra
Contributors: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP
Superior Title: ISSN: 0028-3878.
Subject Terms: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/37076312; hal-04347222; https://hal.science/hal-04347222; https://hal.science/hal-04347222/document; https://hal.science/hal-04347222/file/WNL-2023-000173.pdf; PUBMED: 37076312; PUBMEDCENTRAL: PMC10256121
Authors: HUSSON, Thomas, LECOQUIERRE, François, NICOLAS, Gaël, RICHARD, Anne-Claire, AFENJAR, Alexandra, AUDEBERT-BELLANGER, Séverine, BADENS, Catherine, BILAN, Frédéric, BIZAOUI, Varoona, BOLAND, Anne, BONNET-DUPEYRON, Marie-Noëlle, BRISCHOUX-BOUCHER, Elise, BONNET, Celine, BOURNEZ, Marie, BOUTE, Odile, BRUNELLE, Perrine, CAUMES, Roseline, CHARLES, Perrine, CHASSAING, Nicolas, CHATRON, Nicolas, COGNÉ, Benjamin, COLIN, Estelle, CORMIER-DAIRE, Valérie, DARD, Rodolphe, DAURIAT, Benjamin, DELANNE, Julian, DELEUZE, Jean-François, DEMURGER, Florence, DENOMMÉ-PICHON, Anne-Sophie, DEPIENNE, Christel, DIEUX, Anne, DUBOURG, Christèle, EDERY, Patrick, EL CHEHADEH, Salima, FAIVRE, Laurence, FERGELOT, Patricia, FRADIN, Mélanie, GARDE, Aurore, GENEVIÈVE, David, GILBERT-DUSSARDIER, Brigitte, GOIZET, Cyril, GOLDENBERG, Alice, GOUY, Evan, GUERROT, Anne-Marie, GUIMIER, Anne, HARZALLA, Inès, HÉRON, Delphine, ISIDOR, Bertrand, LACOMBE, Didier, LE GUILLOU HORN, Xavier, KEREN, Boris, KUECHLER, Alma, LACAZE, Elodie, LAVILLAUREIX, Alinoë, LEHALLE, Daphné, LESCA, Gaetan, LESPINASSE, James, LEVY, Jonathan, LYONNET, Stanislas, MOREL, Godeliève, JEAN-MARÇAIS, Nolwenn, MARLIN, Sandrine, MARSILI, Luisa, MIGNOT, Cyril, NAMBOT, Sophie, NIZON, Mathilde, OLASO, Robert, PASQUIER, Laurent, PERRIN, Laurine, PETIT, Florence, PINGAULT, Veronique, PITON, Amelie, PRIEUR, Fabienne, PUTOUX, Audrey, PLANES, Marc, ODENT, Sylvie, QUELIN, Chloe, QUEMENER-REDON, Sylvia, RAMA, Mélanie, RIO, Marlène, ROSSI, Massimiliano, SCHAEFER, Elise, RONDEAU, Sophie, SAUGIER-VEBER, Pascale, SMOL, Thomas, SIGAUDY, Sabine, TOURAINE, Renaud, MAU-THEM, Frederic Tran, TRIMOUILLE, Aurelien, VAN GILS, Julien, VANLERBERGHE, Clémence, VANTALON, Valérie, VERA, Gabriella, VINCENT, Marie, ZIEGLER, Alban, GUILLIN, Olivier, CAMPION, Dominique, CHARBONNIER, Camille
Authors: Bakis, Hugo, Trimouille, Aurelien, Vermorel, Agathe, Goizet, Cyril, Belaroussi, Yaniss, Schutz, Sacha, Sole, Guilhem, Combe, Christian, Martin-Negrier, Marie-Laure, Rigothier, Claire
Contributors: CHU Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Bioingénierie tissulaire (BIOTIS), Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Maladies Neurodégénératives Bordeaux (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)
Superior Title: ISSN: 2048-8505.
Subject Terms: Adult, Glomerular disease, Kidney disease, Mitochondrial disorders, Tubulointerstitial nephropathy, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Relation: hal-04028674; https://hal.science/hal-04028674; https://hal.science/hal-04028674/document; https://hal.science/hal-04028674/file/BPH_CKJ_2023_Bakis.pdf
Authors: Durand, Christelle M.Aff1, Aff2, IDs12883022025530_cor1, Angelini, ChloéAff2, Aff3, Michaud, VincentAff1, Aff3, Delleci, ClaireAff2, Aff4, Aff5, Coupry, IsabelleAff1, Aff2, Goizet, CyrilAff1, Aff2, Aff3, Trimouille, AurelienAff1, Aff6
Superior Title: BMC Neurology. 22(1)
Authors: Coarelli, Giulia, Heinzmann, Anna, Ewenczyk, Claire, Fischer, Clara, Chupin, Marie, Monin, Marie-Lorraine, Hurmic, Hortense, Calvas, Fabienne, Calvas, Patrick, Goizet, Cyril, Thobois, Stéphane, Anheim, Mathieu, Nguyen, Karine, Devos, David, Verny, Christophe, Ricigliano, Vito A G, Mangin, Jean-François, Brice, Alexis, Tezenas du Montcel, Sophie, Durr, Alexandra *
Superior Title: In The Lancet Neurology March 2022 21(3):225-233
Authors: Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, Weckhuysen, Sarah
Contributors: Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, Jame, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, Weckhuysen, Sarah
Subject Terms: Amitriptyline, Autism, Developmental and epileptic encephalopathy, Gain-of-function, KCNQ2, Gain of Function Mutation, Human, Infant, Newborn, KCNQ2 Potassium Channel, Seizure, Autistic Disorder, Epilepsy, Disease, Language Development Disorders
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000861642900013; volume:81; firstpage:104130; journal:EBIOMEDICINE; http://hdl.handle.net/11588/891107; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133178331; https://www.sciencedirect.com/science/article/pii/S2352396422003115?via=ihub
Authors: Angelini, ChloéAff1, Aff2, Goizet, CyrilAff1, Aff2, Aff3, Said, Samia Ait, Camu, William, Depienne, ChristelAff4, Aff6, Aff7, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, PerrineAff1, Aff3, Rooryck, CarolineAff1, Aff3, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, GiovanniAff4, Aff6, Aff10, Leguern, EricAff4, Aff6, Banneau, GuillaumeAff4, Aff11
Superior Title: European Journal of Human Genetics. 29(7):1158-1163
Authors: Méreaux, Jean-LoupAff1, Aff2, Aff3, Firanescu, Cristina, Coarelli, GiuliaAff1, Aff5, Kvarnung, MalinAff6, Aff7, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, RémiAff1, Aff3, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, SaraAff1, Aff3, Aff13, Parodi, LiviaAff1, Aff3, Aff14, Coutelier, MarieAff1, Aff3, Papin, MélanieAff1, Aff3, Svenningsson, PerAff4, Aff15, Azulay, Jean-Philippe, Alonso, IsabelAff13, Aff17, Nilsson, DanielAff6, Aff7, Brice, Alexis, Le Guern, Eric, Press, RayomandAff4, Aff15, Vazza, Giovanni, Loureiro, José Leal, Goizet, CyrilAff18, Aff19, Durr, AlexandraAff1, Aff5, Paucar, MartinAff4, Aff15, Stevanin, GiovanniAff1, Aff3, Aff12, Aff20
Superior Title: neurogenetics. 22(1):71-79
Authors: Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E., Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A., Kaiser, Frank J., Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H., Zara, Federico, Striano, Pasquale
Superior Title: Frontiers in Cell and Developmental Biology ; volume 10 ; ISSN 2296-634X
Availability: https://doi.org/10.3389/fcell.2022.1019715
Authors: Liautard-Haag, Cathy, Durif, Ghislain, Vangoethem, Charles, Baux, David, Louis, Anaïs, Cayrefourcq, Laure, Lamairia, M., Willems, Marjolaine, Zordan, Cécile, Dorian, Virginie, Rooryck, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Le Boette, Elsa, Fradin, Mélanie, Roux, Anne-Françoise, Cossée, Mireille, Koenig, Michel, Alix-Panabières, Catherine, Guissart, Claire, Vincent, Marie-Claire
Contributors: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Institut Montpelliérain Alexander Grothendieck (IMAG), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU de Bordeaux Pellegrin Bordeaux, Hôpital Archet 2 Nice (CHU), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Les Hôpitaux Universitaires de Strasbourg (HUS), CHU de Saint-Brieuc, Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD France-Sud )-Université de Montpellier (UM), This research was funded by French Ministry of Health—DGOS, grant number PHRCI-16-068 (DIACCIMEX)and by Agence de la biomédecine, grant number 20AMP005 (RETRO-DIACCIMEX)”. The University RegionalHospital of Montpellier was the project promoter of this research.
Superior Title: ISSN: 2045-2322.
Subject Terms: Biological techniques, Genetics, Medical research, Molecular biology, Molecular medicine, MESH: Bayes Theorem, MESH: Female, MESH: Haplotypes, MESH: Humans, MESH: Noninvasive Prenatal Testing, MESH: Polymorphism, Single Nucleotide, MESH: Pregnancy, MESH: Sequence Analysis, DNA, MESH: Trinucleotide Repeat Expansion, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/35794169; hal-03716132; https://hal.science/hal-03716132; https://hal.science/hal-03716132v2/document; https://hal.science/hal-03716132v2/file/s41598-022-15307-2.pdf; PUBMED: 35794169; PUBMEDCENTRAL: PMC9259573; WOS: 000825646400084