Lv12
30 积分 2022-11-17 加入
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia
7小时前
待确认
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
1天前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
1天前
已完结
ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?
8天前
已完结
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
8天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
10天前
已关闭
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
14天前
已完结
Outcomes of Cystic Fibrosis Screening–Positive Infants With Inconclusive Diagnosis at School Age
15天前
已完结
Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism
22天前
已完结
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients
29天前
已完结
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