Associated Papers
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation.
He YY et al.
Frontiers in Molecular Neuroscience, 2023
38249294 (PubMed )
Supplement: Table_2.XLSX › Sheet1
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza MH et al.
American Journal of Human Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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