Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Patient informs himself in diagnostic booklet

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Patient informs himself in diagnostic booklet

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?