Works about DNA copy number variations

Results: 3129
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    Circulating tumor DNA is readily detectable among Ghanaian breast cancer patients supporting non-invasive cancer genomic studies in Africa.

    Published in:
    NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00219-7
    By:
    • Ahuno, Samuel Terkper;
    • Doebley, Anna-Lisa;
    • Ahearn, Thomas U.;
    • Yarney, Joel;
    • Titiloye, Nicholas;
    • Hamel, Nancy;
    • Adjei, Ernest;
    • Clegg-Lamptey, Joe-Nat;
    • Edusei, Lawrence;
    • Awuah, Baffour;
    • Song, Xiaoyu;
    • Vanderpuye, Verna;
    • Abubakar, Mustapha;
    • Duggan, Maire;
    • Stover, Daniel G.;
    • Nyarko, Kofi;
    • Bartlett, John M. S.;
    • Aitpillah, Francis;
    • Ansong, Daniel;
    • Gardner, Kevin L.
    Publication type:
    Article
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    Somatic copy number profiling from hepatocellular carcinoma circulating tumor cells.

    Published in:
    NPJ Precision Oncology, 2020, v. 4, n. 1, p. 1, doi. 10.1038/s41698-020-0123-0
    By:
    • Court, Colin M.;
    • Hou, Shuang;
    • Liu, Lian;
    • Winograd, Paul;
    • DiPardo, Benjamin J.;
    • Liu, Sean X.;
    • Chen, Pin-Jung;
    • Zhu, Yazhen;
    • Smalley, Matthew;
    • Zhang, Ryan;
    • Sadeghi, Saeed;
    • Finn, Richard S.;
    • Kaldas, Fady M.;
    • Busuttil, Ronald W.;
    • Zhou, Xianghong J.;
    • Tseng, Hsian-Rong;
    • Tomlinson, James S.;
    • Graeber, Thomas G.;
    • Agopian, Vatche G.
    Publication type:
    Article
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    Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.

    Published in:
    Human Reproduction Open, 2024, v. 2024, n. 3, p. 1, doi. 10.1093/hropen/hoae053
    By:
    • Carriço, Josianne Nunes;
    • Gonçalves, Catarina Inês;
    • Al-Naama, Asma;
    • Syed, Najeeb;
    • Aragüés, José Maria;
    • Bastos, Margarida;
    • Fonseca, Fernando;
    • Borges, Teresa;
    • Pereira, Bernardo Dias;
    • Pignatelli, Duarte;
    • Carvalho, Davide;
    • Cunha, Filipe;
    • Saavedra, Ana;
    • Rodrigues, Elisabete;
    • Saraiva, Joana;
    • Ruas, Luisa;
    • Vicente, Nuno;
    • Martins, João Martin;
    • Lages, Adriana De Sousa;
    • Oliveira, Maria João
    Publication type:
    Article
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    Detection of kinase ampliications in gastric adenocarcinomas.

    Published in:
    Turkish Journal of Medical Sciences, 2014, v. 44, n. 3, p. 461, doi. 10.3906/sag-1303-139
    By:
    • ÖZDEMİR, Muhsin;
    • ÖZNUR, Murat;
    • ÇİFTÇİ, Evrim;
    • ARAS, Beyhan DURAK;
    • ASLAN, Hüseyin;
    • SAYGILI, Hande;
    • ÖNER, Kevser Setenay;
    • ERKASAP, Serdar Mustafa;
    • ÖZAKYOL, Ayşegül;
    • PAŞAOĞLU, Özgül;
    • ÇİLİNGİR, Oğuz;
    • ARTAN, Sevilhan
    Publication type:
    Article
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    qPCR as a Selective Tool for Cytogenetics.

    Published in:
    Plants (2223-7747), 2023, v. 12, n. 1, p. 80, doi. 10.3390/plants12010080
    By:
    • Divashuk, Mikhail G.;
    • Nikitina, Ekaterina A.;
    • Sokolova, Victoria M.;
    • Yurkina, Anna I.;
    • Kocheshkova, Alina A.;
    • Razumova, Olga V.;
    • Karlov, Gennady I.;
    • Kroupin, Pavel Yu.
    Publication type:
    Article
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    Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

    Published in:
    Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70082
    By:
    • Su, Jiasun;
    • Zhang, Shujie;
    • Li, Wei;
    • Wei, Yuan;
    • Lin, Fei;
    • Zhou, Chaofan;
    • Tang, Xianglian;
    • Lan, Yueyun;
    • Huang, Minpan;
    • Zhang, Qiang;
    • Yi, Shang;
    • Yang, Qi;
    • Yi, Sheng;
    • Zhou, Xunzhao;
    • Qin, Zailong;
    • Huang, Peng
    Publication type:
    Article
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    Malformations of cortical development: Fetal imaging and genetics.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2440
    By:
    • Wang, Lin‐Lin;
    • Pan, Ping‐Shan;
    • Ma, Hui;
    • He, Chun;
    • Qin, Zai‐Long;
    • He, Wei;
    • Huang, Jing;
    • Tan, Shu‐Yin;
    • Meng, Da‐Hua;
    • Wei, Hong‐Wei;
    • Yin, Ai‐Hua
    Publication type:
    Article
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    Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2349
    By:
    • Olayiwola, Joie O.;
    • Marhabaie, Mohammad;
    • Koboldt, Daniel;
    • Matthews, Theodora;
    • Siemon, Amy;
    • Mouhlas, Danielle;
    • Porter, Taylor;
    • Kyle, George;
    • Myers, Cortlandt;
    • Mei, Hui;
    • Hou, Ying‐Chen Claire;
    • Babcock, Melanie;
    • Hunter, Jesse;
    • Schieffer, Kathleen M.;
    • Akkari, Yassmine;
    • Reshmi, Shalini;
    • Cottrell, Catherine;
    • Mathew, Mariam T.;
    • Leung, Marco L.
    Publication type:
    Article
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    Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2316
    By:
    • Rosina, Erica;
    • Pezzani, Lidia;
    • Apuril, Erika;
    • Pezzoli, Laura;
    • Marchetti, Daniela;
    • Bellini, Matteo;
    • Lucca, Camilla;
    • Meossi, Camilla;
    • Massimello, Marta;
    • Mariani, Milena;
    • Scatigno, Agnese;
    • Cattaneo, Elisa;
    • Colombo, Lorenzo;
    • Maitz, Silvia;
    • Cereda, Anna;
    • Milani, Donatella;
    • Spaccini, Luigina;
    • Bedeschi, Maria Francesca;
    • Selicorni, Angelo;
    • Iascone, Maria
    Publication type:
    Article
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