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20 积分 2023-02-28 加入
De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
5小时前
待确认
De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
1天前
已关闭
A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey
17天前
已关闭
The Molecular Landscape of Gastric Cancers for Novel Targeted Therapies from Real-World Genomic Profiling
23天前
已完结
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy
30天前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History
1个月前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
1个月前
已完结
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta
1个月前
已完结
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
1个月前
已完结
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