Associated Papers
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S2.xlsx › 5078-NP1688_Leuko_v1-full
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.
Pepłońska B et al.
Genes, 2021
33670313 (PubMed )
Supplement: genes-12-00262-s001.zip › Table_S1.xlsx › Arkusz6
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.
Liu X et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
Wang L et al.
Molecular Medicine Reports, 2018
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Ma J et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Gurgel-Giannetti J et al.
Muscle & Nerve, 2012
Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.
Pan ZW et al.
Journal of Pediatric Surgery, 2011
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Jiang L et al.
Biochemical and Biophysical Research Communications, 2011
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.
Sánchez-Mejías A et al.
Journal of Molecular Medicine (berlin, Germany), 2010
Select a paper to view details