Lv51
1120 积分 2023-10-12 加入
Mutation analysis of the PHEX gene in hypophosphatemic rickets
2小时前
已完结
Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD)
6天前
已完结
Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency
6天前
已完结
Pedigree analysis of an unusual low penetrance retinoblastoma mutation resulting in multiple silent carriers and a discordant effect on monozygotic twins
12天前
已关闭
Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression
18天前
已完结
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides
21天前
已关闭
Genetic analysis of a family with epilepsy accompanied by developmental delay and brain deformity due to a de novo variant of TUBB2A gene
24天前
已完结
Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves
24天前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
1个月前
已完结
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
1个月前
已完结
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