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10 积分 2023-02-14 加入
The role of CFTR channel in female infertility
18小时前
待确认
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
4天前
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
14天前
已完结
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
20天前
已完结
Spectrum of Mutations in Gitelman Syndrome
1个月前
已关闭
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
2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
2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
2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
3个月前
已完结
Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia
3个月前
已完结
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