Lv46
638 积分 2025-04-14 加入
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
3天前
已完结
Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1
3天前
已完结
Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol
3天前
已完结
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism
3天前
已完结
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II
4天前
已完结
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
4天前
已完结
28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders
5天前
已完结
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene
5天前
已完结
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project
8天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis
10天前
已完结
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