Lv3
380 积分 2025-01-14 加入
Выявление наследственных перестроек в гене BRCA1 методом NGS-секвенирования опухолевой ДНК
1天前
求助中
Neonatal diagnosis of congenital dyserythropoietic anemia type II
11天前
已完结
Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups
15天前
已完结
Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant
15天前
已完结
Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function
16天前
已关闭
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
16天前
已完结
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review
16天前
已关闭
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
18天前
已完结
Detecting pathogenic deep intronic variants in Gitelman syndrome
23天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
25天前
已完结
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