Associated Papers
The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.
Mercan M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.
Živković SA et al.
Neuromuscular Disorders : Nmd, 2025
Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
Lawrence AK et al.
Prenatal Diagnosis, 2021
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
31880409 (PubMed )
Supplement: MGG3-8-e1053-s006.xls › novel
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