Associated Papers
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.
Sáez González M et al.
Human Mutation, 2023
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.
Hieu NLT et al.
American Journal of Medical Genetics. Part A, 2022
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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