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40 积分 2023-02-16 加入
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases]
19小时前
已完结
[Contribution of MODY6 gene in the pathogenesis of familial type 2 diabetes in Chinese population]
1天前
求助中
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
2天前
已完结
[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene]
4天前
已完结
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
5天前
已完结
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome
6天前
已完结
Mutational analysis of ATP7B in north Chinese patients with Wilson disease
9天前
已完结
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients
11天前
已完结
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET
14天前
已完结
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity
19天前
已完结
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