The Application of Clinical Genetics最新文献

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied 一例伴有 HNF-1β 基因突变的 MODY5 型糖尿病患者的 17q12 微缺失综合征

The Application of Clinical Genetics Pub Date : 2024-07-01 DOI: 10.2147/tacg.s465859

Shuping Zhang, Yamei Ma, Xiu Zang, Hao Heng, Xuekui Liu, Gangshan Peng, Ran Liu, Jun Liang, H. Geng

引用次数: 0

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report 罕见的 2p15 基因微缺失综合征病例--病例报告

The Application of Clinical Genetics Pub Date : 2024-07-01 DOI: 10.2147/tacg.s465575

G. Ręka, Katarzyna Wojciechowska, Monika Lejman

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Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer 易患乳腺癌的 BRCA1 3'UTR 变异的功能分析

The Application of Clinical Genetics Pub Date : 2024-05-01 DOI: 10.2147/tacg.s444546

Diana Sierra-Díaz, Rodrigo Cabrera, Laura Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Restrepo, Oscar Ortega-Recalde, Adrien Morel

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Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population 免疫基因的多态性及其与结核病易感性的关系：非洲人口分析

The Application of Clinical Genetics Pub Date : 2024-03-01 DOI: 10.2147/TACG.S457395

Wycliff Wodelo, Eddie Wampande, Alfred Andama, David Kateete, Kenneth Ssekatawa

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引用次数: 0

Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure 植入前非整倍体基因检测无法提高 705 对不明原因反复植入失败夫妇的累积活产率

The Application of Clinical Genetics Pub Date : 2024-02-01 DOI: 10.2147/tacg.s441784

Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, T. Ni, Junhao Yan

引用次数: 0