Rare Diseases
Records 1 - 5 (of 5 Records) |
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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Dora Batia Dyne Steel et al. Neurology 2023 |
Genetics of ataxia telangiectasia in a highly consanguineous population. Al-Muhaizea Mohammed A et al. Annals of human genetics 2021 |
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. Arslan Elif Acar et al. Brain & development 2019 Sep |
CLINGEN Actionability Report for Gaucher Disease - GBA ClinGen Actionability Working Group |
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Kashimada Ayako et al. Brain & development 2018 Oct |