Lv51
1430 积分 2022-07-11 加入
Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13
3天前
已完结
Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome
7天前
已完结
[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis]
10天前
已完结
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
14天前
已完结
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A
17天前
已关闭
Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease
20天前
已完结
Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease
20天前
已完结
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A
21天前
已关闭
Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene
1个月前
已完结
Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation
1个月前
已完结
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