Lv1
50 积分 2025-08-12 加入
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
3天前
已完结
Rapid detection of G6PD mutations by multicolor melting curve analysis
12天前
已完结
Molecular genetic study of 59 Chinese Oculocutaneous albinism families
17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
19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
19天前
已完结
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies
20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
23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
23天前
已完结
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
24天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
26天前
已完结
皖公网安备34019202002308
