Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc4.xlsx › ALL
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
40786864 (PubMed )
Supplement: Table1.xlsx › S.table1
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Ching-López A et al.
International Journal of Molecular Sciences, 2021
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I et al.
Molecular Genetics & Genomic Medicine, 2019
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