Lv2
148 积分 2023-08-15 加入
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
2天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
4天前
已完结
Genetic basis of hypertrophic cardiomyopathy in children
26天前
已完结
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss
1个月前
已完结
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]
1个月前
已完结
Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity
2个月前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2个月前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
2个月前
已完结
Research progression of <I>LDLR</I> mutations in Chinese Familial hyper-cholesterolemia
2个月前
已完结
Genetic and clinical profile of patients with hypophosphatemic rickets
3个月前
已完结
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