Lv1
88 积分 2023-04-17 加入
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1天前
求助中
Novel biallelic variants in the PLEC gene are associated with severe hearing loss
1个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
1个月前
已完结
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
1个月前
已完结
Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families
1个月前
已关闭
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis
1个月前
已完结
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
1个月前
已完结
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
2个月前
已完结
[Clinical practice guidelines for spinal muscular atrophy]
2个月前
已完结
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