Lv4
660 积分 2025-06-26 加入
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
2天前
已完结
8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
2天前
待确认
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
30天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
1个月前
已完结
Biochemical and pharmacogenetic dissection of human steroid 5??-reductase type II
1个月前
已完结
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis
1个月前
已完结
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome
1个月前
已完结
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study
2个月前
已完结
Relationship of the Human Growth Hormone Receptor Exon 3 Genotype with Final Adult Height and Bone Mineral Density
2个月前
已完结
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
2个月前
已完结