Lv23
110 积分 2025-04-14 加入
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
2小时前
已完结
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel
2小时前
求助中
Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients
2小时前
求助中
HB I-High Wycombe [β59(E3)LYS → GLU] in a Woman of Malian Origin
3小时前
已关闭
[A study on gene mutation spectrums of α- and β-thalassemias in populations of Yunnan Province and the prenatal gene diagnosis]
3小时前
已关闭
3-Methylcrotonyl-CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening
4小时前
已关闭
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
5天前
已完结
Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene
5天前
已关闭
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta
5天前
已关闭
Mutation analysis of coding sequences for type I procollagen in individuals with low bone density
5天前
已关闭
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