Authors: Sartorius, Victor^{Aff1, Aff3, IDs0046702306100y_cor1}, Giuseppi, Agnès, Iacobelli, Silvia, Leroy-Terquem, Elise, Vinit, Nicolas^{Aff3, Aff4}, Heidet, Laurence^{Aff3, Aff6}, Blanc, Thomas^{Aff3, Aff4}, Stirnemann, Julien^{Aff3, Aff5}, Kermorvant-Duchemin, Elsa^{Aff1, Aff3}, Lapillonne, Alexandre^{Aff1, Aff3}

Superior Title: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 39(2):505-511

Authors: Faviez, Carole, Vincent, Marc, Garcelon, Nicolas, Boyer, Olivia, Knebelmann, Bertrand, Heidet, Laurence, Saunier, Sophie, Chen, Xiaoyi, Burgun, Anita

Contributors: Health data- and model- driven Knowledge Acquisition (HeKA), Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte CHU-Necker (MARHEA), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Néphrologie et transplantation rénale Adultes CHU Necker, Service d'informatique médicale et biostatistiques CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was supported by state funding from The French National ResearchAgency (ANR) under the C’IL-LICO project (Reference: ANR-17-RHUS-0002).This work was supported in part by the French government under management of ANR as part of the “Investissements d’avenir” program, referenceANR-19-P3IA-0001 (PRAIRIE 3IA Institute)., ANR-17-RHUS-0002,C'IL-LICO,Next generation medicine for renal ciliopathies(2017), ANR-19-P3IA-0001,PRAIRIE,PaRis Artificial Intelligence Research InstitutE(2019)

Superior Title: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-04455861 ; Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.55. ⟨10.1186/s13023-024-03063-7⟩.

Subject Terms: Diagnosis support Electronic health record Supervised machine learning Semantic similarity Imbalanced dataset Rare disease, Diagnosis support, Electronic health record, Supervised machine learning, Semantic similarity, Imbalanced dataset, Rare disease, [INFO]Computer Science [cs], [SDV]Life Sciences [q-bio]

Relation: hal-04455861; https://hal.sorbonne-universite.fr/hal-04455861; https://hal.sorbonne-universite.fr/hal-04455861/document; https://hal.sorbonne-universite.fr/hal-04455861/file/s13023-024-03063-7.pdf

Availability: https://doi.org/10.1186/s13023-024-03063-7
https://hal.sorbonne-universite.fr/hal-04455861
https://hal.sorbonne-universite.fr/hal-04455861/document
https://hal.sorbonne-universite.fr/hal-04455861/file/s13023-024-03063-7.pdf

Authors: Boutaba, Mounia, Csaiscich, Dagmar, Baiko, Sergay, Azocar, Marta, Quiroz, Lily, Serna Higuita, Lina Maria, Dušek, Jiří, Ranchin, Bruno, Zaloszyc, Adriane, Davitaia, Tinatin, Gellermann, Jutta, Oh, Jun, Melk, Anette, Schaefer, Franz, Staude, Hagen, Printza, Nikoleta, Tory, Kalman, Gheissari, Alaleh, Remuzzi, Giuseppe, Pasini, Andrea, Ghiggeri, Gian Marco, Ardissino, Gianluigi, Benetti, Elisa, Emma, Francesco, Camilla, Roberta, Nigmatullina, Nazym, Aoun, Bilal, Mourani, Chebl, Abou-Jaoudé, Pauline, Jankauskiene, Augustina, Wasilewska, Anna, Klekot, Lidia Hyla, Zurowska, Aleksandra, Drozdz, Dorota, Tkaczyk, Marcin, Sikora, Przemysław, Ostalska, Danuta, Brodkiewicz, Andrzej, Litwin, Mieczyslaw, Panczyk-Tomaszewska, Małgorzata, Medyńska, Anna, Szczepanska, Maria, Afonso, Alberto Caldas, Jardim, Helena, Lungu, Adrian, Tsygin, Alexej, Prikhodina, Larisa, Paripovic, Dusan, Bogdanovic, Radovan, Krmar, Rafael T., Saeed, Bassam, Anarat, Ali, Balat, Ayse, Baskin, Z. Esra, Cakar, Nilgun, Erdogan, Ozlem, Özcakar, Birsin, Ozaltin, Fatih, Sakallioglu, Onur, Soylemezoglu, Oguz, Akman, Sema, Gok, Faysal, Caliskan, Salim, Candan, Cengiz, Yilmaz, Alev, Sozeri, Betul, Akil, Ipek, Ertan, Pelin, Özkaya, Ozan, Kalyoncu, Mukaddes, Bitzan, Martin, Formina, Svitlana, Sobko, Roman, Kachmar, Jessica, Boyer, Olivia, Lipska-Ziętkiewicz, Beata, Morinière, Vincent, Gribouval, Olivier, Heidet, Laurence, Balasz-Chmielewska, Irena, Cloarec, Sylvie, Csaicsich, Dagmar, Decramer, Stéphane, Guigonis, Vincent, Hogan, Julien, Bayazit, Aysun Karabay, Tsimaratos, Michel, Trautmann, Agnes, Antignac, Corinne, Dorval, Guillaume

Superior Title: In Kidney International Reports April 2024 9(4):973-981

Authors: Ariceta, Gema, Benetti, Elisa, Benz, Marcus R., Bjerre, Anna, Boudailliez, Bernard R., Bouts, Antonia, Drube, Jens, Gjerstad, Ann Christin, Jankauskiene, Augustina, Jávorszky, Eszter, Jay, Nadine, Kirschstein, Martin, Varda, Nataša Marčun, Niel, Olivier, Nobili, François, Pietrement, Christine, Ruzgiene, Dovile, Schild, Raphael, Staude, Hagen, Tory, Kálmán, Tsimaratos, Michel, Walden, Ulrike, Zappel, Hildegard, Buffin-Meyer, Bénédicte, Richard, Juliette, Guigonis, Vincent, Weber, Stefanie, König, Jens, Heidet, Laurence, Moussaoui, Nabila, Vu, Jeanne-Pierrette, Faguer, Stanislas, Casemayou, Audrey, Prakash, Richa, Baudouin, Véronique, Hogan, Julien, Alexandrou, Demi, Bockenhauer, Detlef, Bacchetta, Justine, Ranchin, Bruno, Pruhova, Stepanka, Zieg, Jakub, Lahoche, Annie, Okorn, Christine, Antal-Kónya, Violetta, Morin, Denis, Becherucci, Francesca, Habbig, Sandra, Liebau, Max C., Mauras, Mathilde, Nijenhuis, Tom, Llanas, Brigitte, Mekahli, Djalila, Thumfart, Julia, Tönshoff, Burkhard, Massella, Laura, Eckart, Philippe, Cloarec, Sylvie, Cruz, Alejandro, Patzer, Ludwig, Roussey, Gwenaelle, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Taroni, Francesca, Zaniew, Marcin, Louillet, Ferielle, Bergmann, Carsten, Schaefer, Franz, van Eerde, Albertien M., Schanstra, Joost P., Decramer, Stéphane

Superior Title: In Kidney International Reports May 2024

Authors: Berthaud, Romain^{Aff1, IDs0046702205537x_cor1}, Heidet, Laurence, Oualha, Mehdi, Brat, Roselyne, Talmud, Déborah, Garaix, Florentine, Rabant, Marion, Frémeaux-Bacchi, Véronique, Antignac, Corinne, Boyer, Olivia, Dorval, Guillaume

Superior Title: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(11):2637-2642

Authors: Billon, Clarisse^{Aff1, Aff2}, Piccoli, Giorgina Barbara, de Sainte Agathe, Jean-Madeleine^{Aff4, Aff5}, Stoeva, Radka, Derive, Nicolas, Heidet, Laurence^{Aff7, Aff8}, Berrebi, Dominique^{Aff1, Aff9}, Bruneval, Patrick^{Aff1, Aff10}, Jeunemaitre, Xavier^{Aff1, Aff2}, Hureaux, Marguerite^{Aff1, Aff11, Aff2, Aff7, IDs00438024021363_cor10}

Superior Title: Molecular Genetics and Genomics. 299(1)

Authors: Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie

Superior Title: In Kidney International August 2023 104(2):378-387

Authors: Boisson, Marie, Arrondel, Christelle, Cagnard, Nicolas, Morinière, Vincent, Arkoub, Zaïna Aït, Saei, Hassan, Heidet, Laurence, Kachmar, Jessica, Hummel, Aurélie, Knebelmann, Bertrand, Bonnet-Dupeyron, Marie-Noëlle, Isidor, Bertrand, Izzedine, Hassane, Legrand, Eric, Couarch, Philippe, Gribouval, Olivier, Bole-Feysot, Christine, Parisot, Mélanie, Nitschké, Patrick, Antignac, Corinne, Dorval, Guillaume

Superior Title: In Kidney International August 2023 104(2):367-377

Authors: Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Lebbah, Said, Tores, Frederic, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Antignac, Corinne, Nitschké, Patrick, Dorval, Guillaume

Superior Title: In iScience 21 July 2023 26(7)

Authors: Hureaux, Marguerite, Heidet, Laurence, Vargas-Poussou, Rosa, Dorval, Guillaume

Contributors: Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

Superior Title: ISSN: 0767-0974.

Subject Terms: [SDV]Life Sciences [q-bio]

Relation: hal-04040199; https://hal.science/hal-04040199; https://hal.science/hal-04040199/document; https://hal.science/hal-04040199/file/msc230042.pdf

Availability: https://doi.org/10.1051/medsci/2023028
https://hal.science/hal-04040199
https://hal.science/hal-04040199/document
https://hal.science/hal-04040199/file/msc230042.pdf

Authors: Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie, INSERM–Necker Hospital NPH collaborative group

Superior Title: Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie; INSERM–Necker Hospital NPH collaborative group (2023). The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney International, 104(2):378-387.

Subject Terms: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health

File Description: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/237443/1/1_s2.0_S0085253823003770_main.pdf; info:pmid/37230223; urn:issn:0085-2538

Availability: https://doi.org/10.5167/uzh-23744310.1016/j.kint.2023.05.007
https://www.zora.uzh.ch/id/eprint/237443/
https://www.zora.uzh.ch/id/eprint/237443/1/1_s2.0_S0085253823003770_main.pdf

Authors: Capri, Yline, Kwon, Theresa, Boyer, Olivia, Bourmance, Lucas, Testa, Noe, Baudouin, Véronique, Bonnefoy, Ronan, Couderc, Anne, Meziane, Chakib, Tournier-Lasserve, Elisabeth, Heidet, Laurence, Melki, Judith

Superior Title: J Med Genet

Subject Terms: Developmental Defects

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579472/; http://www.ncbi.nlm.nih.gov/pubmed/37080586; http://dx.doi.org/10.1136/jmg-2023-109176

Availability: https://doi.org/10.1136/jmg-2023-109176
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579472/
http://www.ncbi.nlm.nih.gov/pubmed/37080586

Authors: Dirix, Marie, Gribouval, Olivier, Arrondel, Christelle, Benjelloun, Saadia, Boyer, Olivia, Charbit, Marina, Antignac, Corinne, Heidet, Laurence, Dorval, Guillaume

Contributors: Fondation pour la Recherche Médicale, Agence Nationale de la Recherche

Superior Title: Clinical Genetics ; volume 103, issue 6, page 693-698 ; ISSN 0009-9163 1399-0004

Subject Terms: Genetics (clinical), Genetics

Availability: https://doi.org/10.1111/cge.14305

Authors: Berthaud, Romain^{Aff1, IDs00467022055215_cor1}, Heidet, Laurence, Oualha, Mehdi, Brat, Roselyne, Talmud, Déborah, Garaix, Florentine, Rabant, Marion, Frémeaux-Bacchi, Véronique, Antignac, Corinne, Boyer, Olivia, Dorval, Guillaume

Superior Title: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(11):2635-2636

Authors: Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, Schaefer, Franz

Contributors: Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, Schaefer, Franz

Subject Terms: Chronic kidney disease, Clinical benefit, Genetic counselling, Genetic testing, Massively parallel sequencing, Monogenic diseases

Relation: info:eu-repo/semantics/altIdentifier/pmid/34264297; info:eu-repo/semantics/altIdentifier/wos/WOS:000761455300008; volume:37; issue:2; firstpage:239; lastpage:254; numberofpages:16; journal:NEPHROLOGY DIALYSIS TRANSPLANTATION; http://hdl.handle.net/11584/318373; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127302685

Availability: https://doi.org/10.1093/ndt/gfab218
http://hdl.handle.net/11584/318373

Authors: Dorval, Guillaume^{Aff1, Aff2}, Jeanpierre, Cécile, Morinière, Vincent, Tournant, Carole, Bessières, Bettina, Attié-Bittach, Tania^{Aff3, Aff4}, Amiel, Jeanne^{Aff4, Aff5}, Spaggari, Emmanuel, Ville, Yves^{Aff6, Aff7}, Merieau, Elodie, Gubler, Marie-Claire, Saunier, Sophie, Heidet, Laurence^{Aff2, Aff9}

Superior Title: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. 36(8):2361-2369

Authors: Dorval, Guillaume^{Aff1, Aff2}, Boyer, Olivia^{Aff1, Aff2}, Couderc, Anne, Delbet, Jean-Daniel, Heidet, Laurence^{Aff1, Aff2}, Debray, Dominique, Krug, Pauline^{Aff1, Aff2}, Girard, Muriel, Llanas, Brigitte, Charbit, Marina^{Aff1, Aff2}, Krid, Saoussen^{Aff1, Aff2}, Biebuyck, Nathalie^{Aff1, Aff2}, Fila, Marc, Courivaud, Cécile, Tilley, Frances, Garcelon, Nicolas, Blanc, Thomas, Chardot, Christophe, Salomon, Rémi^{Aff1, Aff2}, Lacaille, Florence

Superior Title: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. 36(5):1165-1173

Authors: Jordan, Penelope, Arrondel, Christelle, Bessières, Bettina, Tessier, Aude, Attié-Bitach, Tania, Guterman, Sarah, Morinière, Vincent, Antignac, Corinne, Saunier, Sophie, Gubler, Marie-Claire, Heidet, Laurence

Superior Title: In Kidney International February 2021 99(2):405-409

Authors: Kohl, Stefan, Avni, Fred E, Boor, Peter, Capone, Valentina, Clapp, William L, De Palma, Diego, Harris, Tess, Heidet, Laurence, Hilger, Alina C, Liapis, Helen, Lilien, Marc, Manzoni, Gianantonio, Montini, Giovanni, Negrisolo, Susanna, Pierrat, Marie-Jeanne, Raes, Ann, Reutter, Heiko, Schreuder, Michiel F, Weber, Stefanie, Winyard, Paul J D, Woolf, Adrian S, Schaefer, Franz, Liebau, Max C

Superior Title: NEPHROLOGY DIALYSIS TRANSPLANTATION ; ISSN: 0931-0509 ; ISSN: 1460-2385

Subject Terms: Medicine and Health Sciences, Transplantation, Nephrology, ultrasonography, pediatrics, guidelines, chronic renal insufficiency, chronic renal failure

File Description: application/pdf

Relation: https://biblio.ugent.be/publication/8770569; http://hdl.handle.net/1854/LU-8770569; http://dx.doi.org/10.1093/ndt/gfac207; https://biblio.ugent.be/publication/8770569/file/01GJZ32FEY5PVVAXKMT4PS5EGJ

Availability: https://doi.org/10.1093/ndt/gfac207
https://biblio.ugent.be/publication/8770569
http://hdl.handle.net/1854/LU-8770569
https://biblio.ugent.be/publication/8770569/file/01GJZ32FEY5PVVAXKMT4PS5EGJ

Authors: Bassanese, Giulia, Wlodkowski, Tanja, Servais, Aude, Heidet, Laurence, Roccatello, Dario, Emma, Francesco, Levtchenko, Elena, Ariceta, Gema, Bacchetta, Justine, Capasso, Giovambattista, Jankauskiene, Augustina, Miglinas, Marius, Ferraro, Pietro Manuel, Montini, Giovanni^{Aff13, Aff14}, Oh, Jun, Decramer, Stephane, Levart, Tanja Kersnik, Wetzels, Jack, Cornelissen, Elisabeth, Devuyst, Olivier^{Aff20, Aff21}, Zurowska, Aleksandra, Pape, Lars, Buescher, Anja, Haffner, Dieter, Marcun Varda, Natasa, Ghiggeri, Gian Marco, Remuzzi, Giuseppe, Konrad, Martin, Longo, Germana, Bockenhauer, Detlef, Awan, Atif, Andersone, Ilze, Groothoff, Jaap W., Schaefer, Franz^Aff1

Superior Title: Orphanet Journal of Rare Diseases. 16(1)