Lv63
2600 积分 2023-12-05 加入
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
5天前
已完结
[Hereditary kidney disease in adolescents and adults]
6天前
已关闭
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
6天前
已完结
Next‐generation sequencing for genetic testing of hearing loss populations
14天前
已完结
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
17天前
已完结
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
19天前
已完结
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
19天前
已完结
Gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia
24天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
25天前
已完结
Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss
27天前
已完结
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