Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yannis Duffourd"'
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
Autor:
Véronique Darmency, Sharon Whiting, Laurence Faivre, Jean-François Deleuze, Daniel H. Lowenstein, Julien Thevenon, Rebecca Hernan, Matthew A. Lines, Orly Elpeleg, Yannis Duffourd, Corinne Antignac, Mirna Assoum, Erin L. Heinzen, Martine Lemesle, Christel Thauvin-Robinet, Aurélie Bertholet-Thomas, Wendy K. Chung, Orrin Devinsky, Eric B. Geller, Vincent des Portes, Alexandre Belot, Simon Edvardson
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
IF 2.264; International audience; De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not