Showing 201 - 220 results of 447 for search '"Medical genetics"', query time: 0.07s Refine Results
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    Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

    Published 2019-04-01
    “…&nbsp;<br> <sup>1</sup>Research Center of Medical Genetics. 1, Moskvorechie str., Moscow, 115522, Russian Federation.…”
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    Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

    Published 2025-01-01
    “…Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for solved cases. …”
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    Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases by Jiaxin Wu, Rui Jiang

    Published 2013-01-01
    “…The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded amino acid, potentially affect protein structure and function, and further result in human inherited diseases. …”
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