Lv2
117 积分 2020-04-09 加入
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
21天前
已完结
A Novel Deep Intronic Mutation Introducing a Cryptic Exon Causing Neurofibromatosis Type 1 in a Family with Highly Variable Phenotypes: A Case Study
1个月前
已关闭
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
3个月前
已完结
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation
3个月前
已完结
Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
4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]
5个月前
已完结
Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency
5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
5个月前
已关闭
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
5个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
5个月前
已完结
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