Lv3
264 积分 2023-04-17 加入
Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis
10小时前
待确认
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
7天前
已完结
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
9天前
已完结
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
9天前
已完结
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
21天前
已完结
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
23天前
已完结
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]
23天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
23天前
已完结
[Hearing assessment and follow-up study of aeonatal deafness gene screening homozygous mutation infants]
24天前
已完结
皖公网安备34019202002308
