Lv2
118 积分 2025-08-06 加入
Expanding the phenome and variome of skeletal dysplasia
3天前
已完结
Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform Neurofibromas
3天前
已完结
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands
3天前
已完结
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
4天前
已完结
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
7天前
已关闭
Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported
7天前
已完结
Genetic results and clinical outcome of fetuses with cardiac rhabdomyoma including a novel mutation in TSC2 gene
7天前
已完结
[Prenatal diagnostics of tuberous sclerosis based on causal mutation knowledge]
8天前
已关闭
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
8天前
已关闭
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
8天前
已完结
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