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388 积分 2025-03-21 加入
Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis
1天前
待确认
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications
1天前
已完结
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing
8天前
已完结
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose‐1‐phosphate uridyltransferase (GALT) deficiency
12天前
已完结
Molecular characterization of the H319Q galactosemia mutation
12天前
已完结
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease
14天前
已关闭
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
19天前
已完结
The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
21天前
已完结
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
25天前
已完结
Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients
26天前
已完结
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