Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Integrated Analysis of Polymerase Family Gene Mutations in Acute Myeloid Leukemia: Clinical Features, Prognosis, and Bioinformatics Insights.
Wu J et al.
Medicina (kaunas, Lithuania), 2024
39768855 (PubMed )
Supplement: medicina-60-01975-s001.zip › TableS2.xlsx › Sheet1
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.
Zhao Y et al.
Clinical Genetics, 2024
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
Chen YP et al.
European Journal of Neurology, 2022
35861376 (PubMed )
Supplement: supplement_1.pdf
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Hou Y et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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