Associated Papers
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.
Salloum R et al.
Acta Neuropathologica Communications, 2017
29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG2
[Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation].
Zhang H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
[Construction and analysis of recombinant eukaryotic expression plasmids for SOX10, the causative gene of Warrdenburg syndrome].
Zhang H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Zhang H et al.
Human Genetics, 2012
Select a paper to view details