Search Results - "chromosome microarray analysis"

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  1. 1
    Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities

    Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities by Yun Guo, Xiaoqin Xin, Linju Zhou, Jungao Huang

    Published 2025-06-01
    Subjects: “…chromosome microarray analysis…”
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  2. 2
    Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review

    Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review by Liqing Jiang, Liqing Jiang, Liqing Jiang, Jiaqi Li, Aizhong Han, Aizhong Han, Aizhong Han, Fei Hou, Fei Hou, Fei Hou, Xiaotong Wei, Yanjun Tian, Yanjun Tian, Yanjun Tian

    Published 2025-07-01
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  3. 3
    A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

    A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) by Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin

    Published 2016-08-01
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  4. 4
    The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations

    The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations by J. K. Kievskaya, I. V. Kanivets, E. V. Kudryavtseva, D. V. Pyankov, S. A. Korostelev

    Published 2020-10-01
    Subjects: “…chromosomal microarray analysis…”
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  5. 5
    Xq12q13.2 duplication detected in a child in selective exome screening

    Xq12q13.2 duplication detected in a child in selective exome screening by A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev

    Published 2024-09-01
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  6. 6
    Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review

    Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Rev... by Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceaușu

    Published 2025-04-01
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  7. 7
    HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES

    HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES by E. L. Dadali, A. A. Sharkov, I. V. Sharkova, I. V. Kanivets, F. A. Konovalov, I. A. Akimova

    Published 2016-08-01
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