Hasil Pencarian - Maria Rigau

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  1. 1
    Intronic CNVs and gene expression variation in human populations.

    Intronic CNVs and gene expression variation in human populations. oleh Maria Rigau, David Juan, Alfonso Valencia, Daniel Rico

    Diterbitkan 2019-01-01
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  2. 2
    A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

    A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration oleh Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo

    Diterbitkan 2021-01-01
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  3. 3
    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes oleh Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

    Diterbitkan 2024-02-01
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