Lv2
150 积分 2024-05-12 加入
Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait
10小时前
待确认
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
11小时前
已完结
Consequences of mutations within the C terminus of the FHL1 gene
17天前
已关闭
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
19天前
已完结
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2
19天前
已完结
First reports of fetal SMARCC1 related hydrocephalus
20天前
已完结
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
1个月前
已完结
Deletion of 11 Amino Acids in Tuberin Associated with Severe Tuberous Sclerosis Phenotypes: Evidence for a New Essential Domain in the First Third of the Protein
1个月前
已完结
Genetic Etiology of Epilepsy: A Retrospective Study From a Single‐Center Cohort
2个月前
已完结
High prevalence of copy number variations in the Japanese participants with suspected MODY
2个月前
已完结
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