Lv1
10 积分 2023-02-14 加入
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
1个月前
已完结
The role of CFTR channel in female infertility
2个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
3个月前
已完结
Three novel mutations (P215L, T289P, and 3811-2 A?G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families
3个月前
已完结
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
3个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
4个月前
已关闭
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
5个月前
已关闭
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory
5个月前
已完结
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
5个月前
已完结
Molecular analysis of 12 Chinese patients with 11β‐hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
5个月前
已完结
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