HuGE Literature Finder
Records 1-3
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
Mutation screening of the ARX gene in patients with autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Mar 144B (2): 228-30. Chaste Pauline, Nygren Gudrun, Anckarsäter Henrik, Råstam Maria, Coleman Mary, Leboyer Marion, Gillberg Christopher, Betancur Catali |
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- Page last updated:Apr 08, 2021
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