Lv11
50 积分 2023-07-14 加入
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
10个月前
已完结
New mutation leading to the full variety of typical features of the Netherton syndrome
10个月前
已完结
Megalocornea-mental retardation syndrome: report of a new case
11个月前
已完结
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene
1年前
已完结
Nonsense-Mediated mRNA Decay Begins Where Translation Ends
1年前
已关闭
Mucolipidosis II: a single causal mutation in the N‐acetylglucosamine‐1‐phosphotransferase gene (GNPTAB) in a French Canadian founder population
1年前
已完结
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
1年前
已完结
Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase
1年前
已完结
The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
1年前
已完结
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study
1年前
已完结
皖公网安备34019202002308
