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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
2个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
2个月前
已完结
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
4个月前
已完结
The role of CFTR channel in female infertility
5个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
5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
5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
5个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
6个月前
已关闭
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
7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
7个月前
已完结
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