Lv12
80 积分 2023-09-25 加入
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
6小时前
已完结
Return of genetic research results in 21,532 individuals with autism
1天前
已完结
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
7天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
5个月前
已完结
SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome
5个月前
已完结
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
5个月前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
6个月前
已完结
Hypogonadotropic hypogonadism due to GnRH receptor mutation in a sibling
7个月前
已关闭
Genetic control of typical and atypical sex development
8个月前
已完结
Application of dHPLC for Mutation Detection of the Fibrillin-1 Gene for the Diagnosis of Marfan Syndrome in a National Health Service Laboratory
10个月前
已关闭
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