Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Hydrops in first trimester as unreported prenatal finding of dyssegmental dysplasia confirmed by exome sequencing.
Wu WJ et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021
Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.
Jiang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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