نتائج البحث

An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function

• Authors : Kambali, Maltesh; Li, Yan; Unichenko, Petr

• Source: Kambali, Maltesh, Yan Li, Petr Unichenko, Jessica A. Feria Pliego, Rachita Yadav, Jing Liu, Patrick McGuinness et al. "An increased copy number of glycine decarboxylase

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APP Gene Copy Number Changes Reflect Exogenous Contamination

• Authors : Kim, Junho; Zhao, Boxun; Huang, August Yue

Subjects: Multidisciplinary

• Source: Kim, Junho, Zhao, Boxun, Huang, August Yue, Miller, Michael B, Lodato, Michael A, Walsh, Christopher A, and Lee, Eunjung Alice. "APP Gene Copy Number Changes Reflect

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Systematic analysis of copy number variation associated with congenital diaphragmatic hernia

• Authors : Zhu, Qihui; Zhang, Chengsheng; Cerveira, Eliza

Subjects: Genetics; copy number variant; CNV

• Source: Zhu, Q., F. A. High, C. Zhang, E. Cerveira, M. K. Russell, M. Longoni, M. P. Joy, et al. 2018. “Systematic analysis of copy number variation associated with congenital

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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

• Authors : Van Schil, Kristof; Naessens, Sarah; Van de Sompele, Stijn

Subjects: copy-number variations; genomic features; inherited retinal disease genes

• Source: Van Schil, K., S. Naessens, S. Van de Sompele, M. Carron, A. Aslanidis, C. Van Cauwenbergh, A. Kathrin Mayer, et al. 2018. “Mapping the genomic landscape of inherited retinal disease genes

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Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

• Authors : Demir Eksi, Durkadin; Erman, Munire; Chorich, Lynn P.

Subjects: Müllerian aplasia; Mayer-Rokitansky-Küster-Hauser syndrome; MRKH

• Source: Demir Eksi, D., Y. Shen, M. Erman, L. P. Chorich, M. E. Sullivan, M. Bilekdemir, E. Yılmaz, et al. 2018. “Copy number variation and regions of homozygosity analysis

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The Tangent Copy-Number Inference Pipeline for Cancer Genome Analyses

• Authors : Oh, Coyin

Subjects: cancer genomics; computational algorithms; bioinformatics

• Source: Oh, Coyin. 2020. The Tangent Copy-Number Inference Pipeline for Cancer Genome Analyses. Doctoral dissertation, Harvard Medical School.

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Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerability

• Authors : Paolella, Brenton R.; Gibson, William; Alberta, John

Subjects: Copy number alterations; Spliceosome; SF3B1

• Source: Paolella, B. R., W. J. Gibson, L. M. Urbanski, J. A. Alberta, T. I. Zack, P. Bandopadhayay, C. A. Nichols, et al. 2017. “Copy-number and gene dependency analysis

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Role of Copy-Number Variations in Non-Coding Regions of Autism Spectrum Disorders

• Authors : Wang, Jia;

Subjects: autism spectrum disorders; copy-number variations; functional enhancers

• Source: Wang, Jia. 2017. Role of Copy-Number Variations in Non-Coding Regions of Autism Spectrum Disorders. Master's thesis, Harvard Medical School.

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Copy Number Variation and Expression Analysis Reveals a Nonorthologous Pinta Gene Family Member Involved in Butterfly Vision

• Authors : Macias-Muñoz, Aide; Briscoe, Adriana D; McCulloch, Kyle

Subjects: phototransduction; chromophore; retinol-binding proteins

• Source: Macias-Muñoz, Aide, Kyle J McCulloch, and Adriana D Briscoe. 2017. “Copy Number Variation and Expression Analysis Reveals a Nonorthologous Pinta Gene Family Member

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Detection of Copy Number Alterations Using Single Cell Sequencing

• Authors : Knouse, Kristin; Wu, Jie; Hendricks, Austin

Subjects: Genetics; Issue 120; copy number alteration

• Source: Knouse, Kristin A., Jie Wu, and Austin Hendricks. 2017. “Detection of Copy Number Alterations Using Single Cell Sequencing.” Journal of Visualized Experiments : JoVE

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