Lv1
100 积分 2022-11-09 加入
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
2天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
3天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
3天前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
5天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
11天前
已完结
Genotype impacts survival in Marfan syndrome
12天前
已完结
Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy
28天前
已完结
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
28天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
1个月前
已完结
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients
1个月前
已完结
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