Associated Papers
Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants.
Geng H et al.
Iscience, 2024
39071892 (PubMed )
Supplement: mmc2.xlsx › Sheet1
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N et al.
Clinical and Translational Medicine, 2023
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2022
35266334 (PubMed )
Supplement: MGG3-10-e1918-s001.docx
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Select a paper to view details