Lv52
840 积分 2025-06-26 加入
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets
5小时前
待确认
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
1个月前
已完结
Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia
2个月前
已完结
On the Problem of Female Infertility: A Search for Genetic Markers
2个月前
已关闭
Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant
2个月前
已完结
Biallelic <i>PROKR2</i> variants and congenital hypogonadotropic hypogonadism: a case report and a literature review
2个月前
已完结
Biallelic <i>PROKR2</i> variants and congenital hypogonadotropic hypogonadism: a case report and a literature review
2个月前
已关闭
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
3个月前
已完结
8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
3个月前
已完结