Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yannis Duffourd"'
Autor:
Lorita La Selva, Delphine Héron, Diana Rodriguez, Marilyn Tallot, Bénédicte Gérard, Charlotte Poe, David Cheillan, Anne Pervillé, Solveig Heide, Damien Haye, Christel Thauvin-Robinet, Yline Capri, Laurence Faivre, Julien Buratti, Marie-Line Jacquemont, Lionel Arnaud, Michel Renouil, Caroline Nava, Renzo Guerrini, Eric LeGuern, Boris Keren, Françoise Darcel, Amélie Piton, Cyril Mignot, Marc Bintner, Yannis Duffourd, Julien Thevenon, Laurence Perrin, Sandrine Passemard, Annalisa Vetro, Domitille Gras, J. Miquel, Charles E. Schwartz
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
International audience; PURPOSE: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a foun
Autor:
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J. Low, Cristina Dias, Markéta Havlovicová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gerard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref-Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin-Robinet, Yannis Duffourd, Jaya K. George-Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Nicola Brunetti-Pierri, Giorgio Casari, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Sérgio B. Sousa, Raoul C.M. Hennekam, Bekim Sadikovic, Julien Thevenon, Jérôme Govin, Antonio Vitobello
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in medicine, 22(11), 1838-1850. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in medicine, 22(11), 1838-1850. Lippincott Williams and Wilkins
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital an