Search Results - Thomas Besnard

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy by Lama Alabdi, Benjamin Cogne, Ali S. Almasood, Abdullah Alsehly, Rana Helaby, Sateesh Maddirevula, Thomas Besnard, Laura Do Souto, Bertrand Isidor, Fowzan S. Alkuraya

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Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome by Antoine Civit, Nathalie Ronce, Benjamin Cogné, Thomas Besnard, David Laurenceau, Catherine Hubert, Marie‐Pierre Moizard, Paul Gueguen, Annick Toutain, Marie‐Laure Vuillaume

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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( GSS ) by Jeanne Jury, Jean‐François Benoist, Madeleine Joubert, Chloé Quelin, Thomas Besnard, Solène Conrad, Claudine Le Vaillant, Stéphane Bézieau, Bertrand Isidor, Tania Attié‐Bitach, Benjamin Cogné, Marie Vincent

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WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes by Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder by Samuel M Bradbrook, Gail Graham, Melissa T. Carter, Maria Kibaek, Christina Fagerberg, Martin J. Larsen, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Marie Vincent, Bertrand Isidor, Stephane Bezieau, Benjamin Cogne, Kathrine Bjørgo, Silja Svanstrøm Amundsen, Thomas Courtin, Lisa Emrick, Jill A. Rosenfeld, Monika Weisz‐Hubshman, Bryan C. Mak, Julian Martinez‐Agosto, Mathilde Heulin, Gilles Morin, Boris Keren, Sacha Schutz, Pauline Monin, Mathilde Pujalte, Louis Januel, Gaetan Lesca, Marie‐Noëlle Bonnet‐Dupeyron Valence, Henri Margot, Jonathan Levy, Emmanuela Iovino, Federica Isidori, Tommaso Pippucci, Francesca Montanari, Lauren Bell, Jennifer Burton, Erin Torti, Ingrid M. Wentzensen, Julien Marcadier

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