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Showing articles 0 to 7 of 7

Filter Applied: exome sequencing (Click to remove)

Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022

A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

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

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



Showing articles 0 to 7 of 7