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108 积分 2025-02-14 加入
CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype
8天前
已完结
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings
8天前
已完结
Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome
20天前
已完结
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa
22天前
已完结
Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome
22天前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
22天前
已完结
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype inTBX6Causes Congenital Scoliosis
29天前
已完结
Novel variants and haplotypes of human flavin-containing monooxygenase 3 gene associated with Japanese subjects suffering from trimethylaminuria
2个月前
已完结
Genetic and clinical profile of patients with hypophosphatemic rickets
2个月前
已完结
Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction
2个月前
已完结
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