Lv5
930 积分 2023-08-21 加入
Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant
7天前
已完结
New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment
10天前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
11天前
已完结
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]
14天前
已完结
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]
16天前
已完结
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
17天前
已完结
[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]
17天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
17天前
已完结
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis]
18天前
已完结
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
21天前
已完结
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