Lv3
360 积分 2024-12-11 加入
Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency
8小时前
待确认
[Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency]
8小时前
已完结
Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation
1个月前
已完结
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Impaired development of B cells with PRF1 variants in an adult
1个月前
已完结
[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome]
2个月前
已完结
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients
5个月前
已关闭
[Molecular basis for an individual with rare p phenotype in P1Pk blood group system]
5个月前
已完结
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