Enter your terms above and click the 'Search' button.

Showing articles 0 to 11 of 11 Filter Applied: exome sequencing (Click to remove) GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019 A 13-year-old boy with Chronic Ataxia and Developmental Delay Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017 SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016 A 51-Year-Old Woman with Abnormal Corups Callosum Signal JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024 A 31-Year-Old Man with Sequential Vision Loss Neurol 98:163-169, Fortes, B.,et al, 2022 Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022 A 13-Year-Old Boy with Subacute-Onset Spastic Gait JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021 Pes Cavus and Neuropathy Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019 Somatic Mutations in Cerebral Cortical Malformations NEJM 371:733-743, Jamuar, S.S.,et al, 2014 Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability NEJM 367:1921-1929, Ligt, J.,et al, 2012 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability NEJM 367:1921-1929, Ligt, J.,et al, 2012 Showing articles 0 to 11 of 11