Lv65
2292 积分 2024-06-13 加入
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
1天前
待确认
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders
4天前
已完结
Genetic analyses of Chinese patients with digenic oculocutaneous albinism
4天前
已完结
Genetic Basis of Childhood Cardiomyopathy
10天前
已完结
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
14天前
已完结
Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome
24天前
已完结
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing
26天前
已关闭
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia
1个月前
已完结
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
1个月前
已完结
A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9)
1个月前
已完结
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