Lv32
248 积分 2023-08-15 加入
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients
4天前
已完结
Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
1个月前
已关闭
Progression of Late-Onset Stargardt Disease
1个月前
已完结
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
1个月前
已完结
Electrocardiographic and genetic characteristics in first degree relatives of hypertrophic cardiomyopathy probands: A descriptive cross-sectional study from Vietnam
1个月前
已完结
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
1个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已完结
Genetic basis of hypertrophic cardiomyopathy in children
2个月前
已完结
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss
2个月前
已完结
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]
3个月前
已完结
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