Lv1
30 积分 2025-08-12 加入
Rapid detection of G6PD mutations by multicolor melting curve analysis
18小时前
待确认
Molecular genetic study of 59 Chinese Oculocutaneous albinism families
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
7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
7天前
已完结
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies
8天前
已完结
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
11天前
已关闭
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
11天前
已完结
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
12天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
14天前
已完结
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