Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.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
The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.
Li L et al.
International Urogynecology Journal, 2022
34973089 (PubMed )
Supplement: 192_2021_4917_MOESM1_ESM.xls › Sheet1
Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
Okamoto R et al.
Plos One, 2020
Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.
Ju M et al.
British Journal of Haematology, 2018
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s004.pdf
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