Lv5
1400 积分 2023-09-20 加入
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
1天前
已完结
Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
3天前
已完结
Genetic testing in children enrolled in epilepsy surgery program. A real-life study
4天前
已完结
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
8天前
已完结
A clinical and genetic study of SPG31 in Japan
8天前
已完结
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis
11天前
已完结
Clinical and genetic characterization of children with cubilin variants
11天前
已完结
A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis
28天前
已完结
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
28天前
已关闭
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
28天前
已完结
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