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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder Mahdi, Soha S.; Caldeira, Eduarda; Matthews, Harold; Vanneste, Michiel; Nauwelaers, Nele; Yuan, Meng; Bouritsas, Giorgos; Baynam, Gareth S.; Hammond, Peter; Spritz, Richard; Klein, Ophir D.; Bronstein, Michael; Hallgrimsson, Benedikt; Peeters, Hilde; Claes, Peter 分享 收藏
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population Vanneste, Michiel; Hoskens, Hanne; Goovaerts, Seppe; Matthews, Harold; Devine, Jay; Aponte, Jose D.; Cole, Joanne; Shriver, Mark; Marazita, Mary L.; Weinberg, Seth M.; Walsh, Susan; Richmond, Stephen; Klein, Ophir D.; Spritz, Richard A.; Peeters, Hilde; Hallgrimsson, Benedikt; Claes, Peter 分享 收藏
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Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome 多个 paralogs 和重组机制共同导致 22q11.2 缺失综合征的高发病率。 Vervoort, Lisanne; Dierckxsens, Nicolas; Sousa Santos, Marta; Meynants, Senne; Souche, Erika; Cools, Ruben; Heung, Tracy; Devriendt, Koen; Peeters, Hilde; McDonald-McGinn, Donna M.; Emanuel, Beverly S.; Bassett, Anne S.; Vermeesch, Joris R. 分享 收藏
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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder E3泛素连接酶衔接子KLHL20中的De novo错义变体导致发育障碍,包括智力障碍,癫痫和自闭症谱系障碍 Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde 分享 收藏
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge Lannoo, Lore; van Straaten, Khaila; Breckpot, Jeroen; Brison, Nathalie; De Catte, Luc; Dimitriadou, Eftychia; Legius, Eric; Peeters, Hilde; Parijs, Ilse; Tsuiko, Olga; Vancoillie, Leen; Vermeesch, Joris Robert; Van Buggenhout, Griet; Van den Bogaert, Kris; Van Calsteren, Kristel; Devriendt, Koenraad 分享 收藏
Refining nosology by modelling variation among facial phenotypes: the RASopathies Matthews, Harold; Vanneste, Michiel; Katsura, Kaitlin; Aponte, David; Patton, Michael; Hammond, Peter; Baynam, Gareth; Spritz, Richard; Klein, Ophir D.; Hallgrimsson, Benedikt; Peeters, Hilde; Claes, Peter 分享 收藏
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