Torthaí cuardaigh - Abeltje M. Polstra

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  1. 1
    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes

    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes de réir Jan Maarten Cobben, I. Krzyzewska, Andrea Venema, Adri N. Mul, Abeltje M. Polstra, Alex V. Postma, Robert Śmigiel, Karolina Pesz, Jacek Nikliński, Monika Chomczyk, Peter Henneman, Marcel M.A.M. Mannens

    Foilsithe / Cruthaithe 2019
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    Artigo
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  2. 2
    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders de réir Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher

    Foilsithe / Cruthaithe 2021
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    Artigo
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  3. 3
    Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

    Loss-of-function variants in myocardin cause congenital megabladder in humans and mice de réir Arjan C. Houweling, Glenda M. Beaman, Alex V. Postma, T. Blair Gainous, Klaske D. Lichtenbelt, Francesco Brancati, Filipa Lopes, Ingeborg van der Made, Abeltje M. Polstra, Michael L. Robinson, Kevin Wright, Jamie M. Ellingford, Ashley R. Jackson, Eline Overwater, Rita Genesio, Silvio Romano, Letizia Camerota, Emanuela D’Angelo, E. J. Meijers-Heijboer, Vincent M. Christoffels, Kirk M. McHugh, Brian L. Black, William G. Newman, Adrian S. Woolf, Esther E. Creemers

    Foilsithe / Cruthaithe 2019
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  4. 4
    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity de réir Nina De Rocker, Sarah Vergult, David A. Koolen, Eva Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie M.H.F. Bongers, Thomy de Ravel, Koenraad Devriendt, Sabrina Giglio, Laurence Faivre, Shelagh Joss, Saskia M. Maas, Nathalie Marle, Francesca Novara, Małgorzata J.M. Nowaczyk, Hilde Peeters, Abeltje M. Polstra, Filip Roelens, Carla Rosenberg, Julien Thévenon, Zeynep Tümer, Suzanne Vanhauwaert, Konstantinos Varvagiannis, Andy Willaert, Marjolein H. Willemsen, Marjolaine Willems, Orsetta Zuffardi, Paul Coucke, Frank Speleman, Evan E. Eichler, Tjitske Kleefstra, Björn Menten

    Foilsithe / Cruthaithe 2014
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