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Annals of Neurology|April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonismAna Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.Nature Communications|May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonismBjörn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.Genome Medicine|September 17, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosisDaniel Kaschta, Christina Post, Franziska Gaass, et al.Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.Pageof 3