Associated Papers
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Divergent Folding-Mediated Epistasis Among Unstable Membrane Protein Variants.
Chamness LM et al.
Biorxiv : the Preprint Server for Biology, 2024
37662415 (PubMed )
Supplement: media-1.pdf
Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism.
Wang XB et al.
Asian Journal of Andrology, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene.
Wang L et al.
Medicine, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.
Hou Q et al.
European Journal of Endocrinology, 2020
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Fan Y et al.
Scientific Reports, 2017
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