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90 积分 2023-04-17 加入
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
1天前
待确认
Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families
4天前
求助中
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
4天前
已完结
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis
4天前
已完结
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
4天前
已完结
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
12天前
已完结
[Clinical practice guidelines for spinal muscular atrophy]
12天前
已完结
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
13天前
已完结
Biallelic variants in MOS cause large polar body in oocyte and human female infertility
17天前
已完结
The loss of function GBA1 c.231C > G mutation associated with Parkinson disease
27天前
已完结
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