Showing 21 - 28 results of 28 for search '"chromosome microarray analysis"', query time: 0.05s Refine Results
  1. 21
    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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  2. 22
    Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis

    Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis by Na Zhang, Nan Huang, Yu’e Chen, Xinying Chen, Jianlong Zhuang

    Published 2024-12-01
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  3. 23
    Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

    Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements by Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang

    Published 2025-05-01
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  4. 24
    Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome

    Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome by Xi Yang, Rong Hu, Weiwei Huang, Jian Lu

    Published 2025-08-01
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  5. 25
    Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications

    Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications by Himani Pandey, Jyoti Sharma, Sourabh Kumar, Nakul Mohan, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Ashish Kumar Dubey, Prativa Choudhury, Prabudh Goel

    Published 2025-05-01
    Subjects: “…chromosomal microarray analysis…”
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  6. 26
    Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing

    Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing by Rui Guo, Chunhong Duan, Mehdi Zarrei, Miriam S. Reuter, Rui Dong, Guangye Zhang, Xiaomeng Yang, Haiyang Zhang, Ying Wang, Stephen W. Scherer, Yi Liu, Zhongtao Gai

    Published 2025-07-01
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  7. 27
    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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  8. 28
    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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