Lv2
107 积分 2020-04-09 加入
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
1个月前
已完结
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation
1个月前
已完结
Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
3个月前
已完结
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]
3个月前
已完结
Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency
3个月前
已完结
Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway
3个月前
已关闭
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
3个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
3个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
4个月前
已完结
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
4个月前
已完结
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