Lv5
814 积分 2024-08-07 加入
Novel variants in PABPC1L cause female infertility due to oocyte maturation defects
2天前
已完结
[Analysis of 12 cases with methylmalonicacidemia cblA type]
2天前
已完结
New insights into CC2D2A-related Joubert syndrome
7天前
已完结
New insights into CC2D2A-related Joubert syndrome
7天前
已完结
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
9天前
已关闭
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish cases affected by hypertrophic cardiomyopathy
9天前
已完结
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years
17天前
已完结
[ORAI1 variation induced combined immunodeficiency: a case report and literature review]
20天前
已完结
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
22天前
已完结
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations
24天前
已完结
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