Associated Papers
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2025
40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › proband.xlsx › Sheet1
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
Clonality analysis of multifocal papillary thyroid carcinoma by using genetic profiles.
Lu Z et al.
The Journal of Pathology, 2016
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