Associated Papers
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
UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.
Saini N et al.
Plos Genetics, 2021
33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table
THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.
Zhang L et al.
Plos Genetics, 2020
32776944 (PubMed )
Supplement: pgen.1008953.s016.pdf
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
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.
Zlotina A et al.
Frontiers in Genetics, 2018
29963074 (PubMed )
Supplement: Table_1.XLSX › ____1
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