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Showing articles 0 to 13 of 13 Filter Applied: exome sequencing (Click to remove) Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012 Genome Sequencing in the NICU and PICU is Here to Stay Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024 Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022 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 Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021 A 13-Year-Old Boy with Subacute-Onset Spastic Gait JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021 A 51-Year-Old Woman with Abnormal Corups Callosum Signal JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024 A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements Neurol 103:e210046, Panigrahi,B.,et al, 2024 Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia Neurol 104:e210253, Chadha,D.,et al, 2024 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 Somatic Mutations in Cerebral Cortical Malformations NEJM 371:733-743, Jamuar, S.S.,et al, 2014 Showing articles 0 to 13 of 13