Lv52
920 积分 2023-12-01 加入
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review
4小时前
已完结
henotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene
1天前
已完结
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy
10天前
已完结
Mutation screening and prenatal diagnosis of tuberous sclerosis complex
25天前
已完结
Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome
28天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
1个月前
已完结
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
1个月前
已完结
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
1个月前
已完结
Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency
1个月前
已完结
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