Lv5
1080 积分 2023-08-09 加入
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China
1天前
已完结
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
1天前
已完结
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review
7天前
已完结
Novel compound heterozygous NDNF variants in congenital hypogonadotropic hypogonadism: insights into genotype-phenotype correlation and infertility
25天前
已完结
KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review
1个月前
已完结
Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
1个月前
已关闭
Partial GCK gene deletion mutations causing maturity-onset diabetes of the young
1个月前
已完结
Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B
1个月前
已完结
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes—a prospective observational study
1个月前
已完结
TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases
1个月前
已完结
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