Lv1
90 积分 2022-11-03 加入
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome
24天前
已完结
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
25天前
已完结
Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
1个月前
已完结
Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population
1个月前
已完结
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
1个月前
已完结
Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women
2个月前
已完结
Assessing the clinical viability of micro 3 pronuclei zygotes
3个月前
已完结
A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report
3个月前
已完结
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
3个月前
已完结
Isolated Psychiatric Presentation of Cobalamin C type disorder with Novel mutation in Middle Childhood: A Case Report
3个月前
已完结
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