Authors: Yang, Fang, Begemann, Anaïs, Reichhart, Nadine, Haeckel, Akvile, Steindl, Katharina, Schellenberger, Eyk, Sturm, Ronja Fini, Barth, Magalie, Bassani, Sissy, Boonsawat, Paranchai, Courtin, Thomas, Delobel, Bruno, Gunning, Boudewijn, Hardies, Katia, Jennesson, Mélanie, Legoff, Louis, Linnankivi, Tarja, Prouteau, Clément, Smal, Noor, Spodenkiewicz, Marta, Toelle, Sandra P, Van Gassen, Koen, Van Paesschen, Wim, Verbeek, Nienke, Ziegler, Alban, Zweier, Markus, Horn, Anselm H C, Sticht, Heinrich, Lerche, Holger, Weckhuysen, Sarah, Strauss, Olaf, Rauch, Anita
Superior Title: Yang, Fang; Begemann, Anaïs; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Mélanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clément; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H C; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita (2024). Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. American Journal of Human Genetics:Epub ahead of print.
Subject Terms: Medical Clinic, Institute of Medical Genetics, 610 Medicine & health, 570 Life sciences, biology, Genetics, Genetics (clinical), ANO4, TMEM16D, anoctamin, developmental and epileptic encephalopathy, temporal lobe epilepsy, GEFS+, Ca2+-dependent ion channel, phospholipid scramblase
File Description: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/259593/1/1_s2.0_S0002929724001290_main.pdf; urn:issn:0002-9297
Authors: Kersten, BJ, Numan, L, van der Schoot, MM, de Jong, M, Ramjankhan, F, Aarts, E, Oerlemans, MIFJ, van Laake, LW, de Waal, EEC
Contributors: Leerstoel Klugkist, Methodology and statistics for the behavioural and social sciences
Subject Terms: Axial flow, Cardiac vasoplegia syndrome, Centrifugal flow, Centrifugal flow with artificial pulse, Continuous-flow left ventricular assist device, Flow profile, Morbidity, Mortality, Outcomes, Cardiology and Cardiovascular Medicine, Genetics(clinical), Genetics, Molecular Medicine, Pharmaceutical Science
File Description: application/pdf
Availability: https://dspace.library.uu.nl/handle/1874/451912
Authors: Brouwers, Sofie, Heimgartner, Raphael, Laptseva, Natallia, Aguzzi, Adriano, Ehl, Niklas F, Fehr, Thomas, Hitz, Felicitas, Jung, Hans H, Kälin, Joel, Manz, Markus G, Müllhaupt, Beat, Ruschitzka, Frank, Seeger, Harald, Stussi, Georg, Zweier, Markus, Flammer, Andreas J, Gerber, Bernhard, Schwotzer, Rahel
Superior Title: Brouwers, Sofie; Heimgartner, Raphael; Laptseva, Natallia; Aguzzi, Adriano; Ehl, Niklas F; Fehr, Thomas; Hitz, Felicitas; Jung, Hans H; Kälin, Joel; Manz, Markus G; Müllhaupt, Beat; Ruschitzka, Frank; Seeger, Harald; Stussi, Georg; Zweier, Markus; Flammer, Andreas J; Gerber, Bernhard; Schwotzer, Rahel (2024). Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry. Swiss Medical Weekly, 154(2):3485.
Subject Terms: Institute of Neuropathology, Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, General Medicine, Genetics, Genetics (clinical), Amyloid Neuropathies, Amyloidosis, Retrospective Studies
File Description: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/257836/1/ZORA_5836.pdf; info:pmid/38579306; urn:issn:0036-7672
Authors: Blondeau Da Silva, Stéphane, Mwacharo, Joram M, Li, Menghua, Ahbara, Abulgasim, Muchadeyi, Farai Catherine, Dzomba, Edgar Farai, Lenstra, Johannes A, Da Silva, Anne
Contributors: One Health Toxicologie
Subject Terms: Cattle breeds, F-statistics, Genetic diversity, Identity, Introgression, Population-structure, Positive selection, Sheep breeds, Tool, Whole-genome association, Genetics(clinical), Genetics
File Description: application/pdf
Availability: https://dspace.library.uu.nl/handle/1874/437905
Authors: van Westerhoven, Anouk C, Mehrabi, Rahim, Talebi, Reza, Steentjes, Maikel B F, Corcolon, Benny, Chong, Pablo A, Kema, Gert H J, Seidl, Michael F
Contributors: Theoretical Biology and Bioinformatics, Sub Bioinformatics
Subject Terms: Zasmidium syzygii, banana leaf disease, foliar blight, genome assembly, plant disease, Genetics(clinical), Genetics, Molecular Biology
File Description: application/pdf
Availability: https://dspace.library.uu.nl/handle/1874/437678
Authors: Gose, Marc-Alexander, Humble, Emily, Brownlow, Andrew, Wall, Dave, Rogan, Emer, Sigurðsson, Guðjón Már, Kiszka, Jeremy J, Thøstesen, Charlotte Bie, IJsseldijk, Lonneke L, Ten Doeschate, Mariel, Davison, Nicholas J, Øien, Nils, Deaville, Rob, Siebert, Ursula, Ogden, Rob
Contributors: VPDC pathologie
Subject Terms: Genetics(clinical), Genetics
File Description: application/pdf
Availability: https://dspace.library.uu.nl/handle/1874/437676
Authors: Quinodoz, Mathieu, Kaminska, Karolina, Cancellieri, Francesca, Han, Ji Hoon, Peter, Virginie G., Celik, Elifnaz, Janeschitz-Kriegl, Lucas, Schärer, Nils, Hauenstein, Daniela, György, Bence, Calzetti, Giacomo, Hahaut, Vincent, Custódio, Sónia, Sousa, Ana Cristina, Wada, Yuko, Murakami, Yusuke, Fernández, Almudena Avila, Hernández, Cristina Rodilla, Minguez, Pablo, Ayuso, Carmen, Nishiguchi, Koji M., Santos, Cristina, Santos, Luisa Coutinho, Tran, Viet H., Vaclavik, Veronika, Scholl, Hendrik P.N., Rivolta, Carlo
Contributors: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Subject Terms: Genetics, Genetics(clinical), SDG 3 - Good Health and Well-being
Relation: PURE: 87219251; PURE UUID: df308be6-ce10-4c82-a06c-9dd7615bd0af; Scopus: 85188905703; http://hdl.handle.net/10362/166083; https://doi.org/10.1016/j.ajhg.2024.03.001
Authors: Maimaris, Stiliano, Schiepatti, Annalisa, Scarcella, Chiara, Badulli, Carla, Biagi, Federico
Superior Title: International Journal of Immunogenetics ; ISSN 1744-3121 1744-313X
Subject Terms: Genetics (clinical), Genetics, Molecular Biology, General Medicine, Immunology
Availability: https://doi.org/10.1111/iji.12671
Authors: Guo, Liuxian, Zhou, Guojin, Huang, Min, Tang, Kejing, Xu, Jing, Chen, Jie
Contributors: Natural Science Foundation of Guangdong Province, Wu Jieping Medical Foundation
Superior Title: The Clinical Respiratory Journal ; volume 18, issue 4 ; ISSN 1752-6981 1752-699X
Subject Terms: Genetics (clinical), Pulmonary and Respiratory Medicine, Immunology and Allergy
Availability: https://doi.org/10.1111/crj.13748
Authors: Han, Jun, Gao, Jie, Chen, Demei, Du, Mou, Wu, Yuxin, Ma, Xidong, Xie, Mei, Han, Hua, Wu, Chongchong, Xue, Xinying
Contributors: National Natural Science Foundation of China
Superior Title: The Clinical Respiratory Journal ; volume 18, issue 4 ; ISSN 1752-6981 1752-699X
Subject Terms: Genetics (clinical), Pulmonary and Respiratory Medicine, Immunology and Allergy
Availability: https://doi.org/10.1111/crj.13750
Authors: Li, Wenqiang, Huang, Qian, He, Xiaoyu, He, Qian, Lai, Qun, Yuan, Quan, Deng, Zhiping
Superior Title: The Clinical Respiratory Journal ; volume 18, issue 4 ; ISSN 1752-6981 1752-699X
Subject Terms: Genetics (clinical), Pulmonary and Respiratory Medicine, Immunology and Allergy
Availability: https://doi.org/10.1111/crj.13752
Authors: Nitschke, Nikolaj Juul, Jelsig, Anne Marie, Lautrup, Charlotte, Lundsgaard, Malene, Severinsen, Marianne Tang, Cowland, Jack Bernard, Maroun, Lisa Leth, Andersen, Mette Klarskov, Grønbæk, Kirsten
Contributors: Rigshospitalet, Kræftens Bekæmpelse
Superior Title: Clinical Genetics ; ISSN 0009-9163 1399-0004
Subject Terms: Genetics (clinical), Genetics
Availability: https://doi.org/10.1111/cge.14534
Authors: Baum, Larry, Lee, Chi Chiu, Ye, Rui, Zhong, Yuanxin, Hung, Se Fong, Tang, Chun Pan, Ho, Ting Pong, Swanson, James M, Moyzis, Robert K, Sham, Pak‐Chung, Leung, Patrick Wing‐Leung
Superior Title: Annals of Human Genetics ; ISSN 0003-4800 1469-1809
Subject Terms: Genetics (clinical), Genetics
Availability: https://doi.org/10.1111/ahg.12560
Authors: Kiladi, Maria
Superior Title: Annals of Human Genetics ; ISSN 0003-4800 1469-1809
Subject Terms: Genetics (clinical), Genetics
Availability: https://doi.org/10.1111/ahg.12551
Authors: Hennocq, Quentin, Garcelon, Nicolas, Bongibault, Thomas, Bouygues, Thomas, Marlin, Sandrine, Amiel, Jeanne, Boutaud, Lucile, Douillet, Maxime, Lyonnet, Stanislas, Pingault, Vèronique, Picard, Arnaud, Rio, Marlèe, Attie‐Bitach, Tania, Khonsari, Roman H., Roux, Nathalie
Contributors: Agence Nationale de la Recherche, National University of Singapore
Superior Title: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6577
Authors: Noll, Anne T. R., Gijtenbeek, Manon, Verweij, E. J. T (Joanne), Lewi, Liesbeth, Herling, Lotta, Haak, Monique C.
Superior Title: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6575
Authors: Goldmuntz, Elizabeth, Bassett, Anne S., Boot, Erik, Marino, Bruno, Moldenhauer, Julie S., Óskarsdóttir, Sólveig, Putotto, Carolina, Rychik, Jack, Schindewolf, Erica, McDonald‐McGinn, Donna M., Blagowidow, Natalie
Contributors: National Institutes of Health
Superior Title: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6566
Authors: Freud, Lindsay R., Simpson, Lynn L.
Superior Title: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6571
Authors: Hammer, Carly, Pierson, Summer, Acevedo, Ashley, Goldberg, James, Westover, Thomas, Chawla, Devika, Mabey, Brent, Muzzey, Dale, Johansen Taber, Katherine
Contributors: Myriad Genetics
Superior Title: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6562
Authors: McInnes‐Dean, Hannah, Mellis, Rhiannon, Daniel, Morgan, Walton, Holly, Baple, Emma L., Bertoli, Marta, Fisher, Jane, Gajewska‐Knapik, Katarzyna, Holder‐Espinasse, Muriel, Lafarge, Caroline, Leeson‐Beevers, Kerry, McEwan, Alec, Pandya, Pranav, Parker, Michael, Peet, Sophie, Roberts, Lauren, Sankaran, Srividhya, Smith, Audrey, Tapon, Dagmar, Wu, Wing Han, Wynn, Sarah L., Chitty, Lyn S., Hill, Melissa, Peter, Michelle
Contributors: National Institute for Health and Care Research
Superior Title: Prenatal Diagnosis ; volume 44, issue 4, page 465-479 ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6537