Lv2
166 积分 2024-10-26 加入
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
1个月前
已关闭
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
2个月前
已关闭
Mutational Analyses of Fanconi Anemia Genes in Japanese Patients
3个月前
已完结
Discordant Reporting of a Previously Undescribed Pathogenic GermlineBRCA2Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma
3个月前
已关闭
Discordant Reporting of a Previously Undescribed Pathogenic GermlineBRCA2Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma
3个月前
已关闭
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
3个月前
已关闭
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
3个月前
已关闭
Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools
3个月前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
5个月前
已完结
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