Journal article

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data

Haloom Rafehi, David J Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Movement Disorders | WILEY | Published : 2020