Showing 1 - 5 results of 5 for search '"X-inactivation"', query time: 0.05s Refine Results
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    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders by Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch

    Published 2025-01-01
    “…In addition, we identified all underlying pathogenic single nucleotide and structural variants and showed haplotype-aware skewed X-inactivation evaluation directs clinical interpretation. …”
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    Biphasic Chromatin Structure and FISH Signals Reflect Intranuclear Order by Jyoti P. Chaudhuri, Eva Kasprzycki, Mathew Battaglia, John R. McGill, Anton Brøgger, Joachim-U. Walther, Albrecht Reith

    Published 2005-01-01
    “…Background and Aim: One of the two parental allelic genes may selectively be expressed, regulated by imprinting, X-inactivation or by other less known mechanisms. This study aims to reflect on such genetic mechanisms. …”
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