Associated Papers
DNAJB13 polymorphisms and association with idiopathic asthenozoospermia in Sichuan, China.
He J et al.
Basic and Clinical Andrology, 2025
A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.
Liu M et al.
Journal of Assisted Reproduction and Genetics, 2022
Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.
Li WN et al.
Andrology, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
Chen M et al.
Genomics, Proteomics & Bioinformatics, 2014
25462154 (PubMed )
Supplement: mmc2.xlsx › Sheet1
[Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography].
Du J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
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