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Affichage: 2 résultats.
    • Article de périodique
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
    Vissers, Lisenka E L M Kalvakuri, Sreehari de Boer, Elke Geuer, Sinje Oud, Machteld van Outersterp, Inge Kwint, Michael Witmond, Melde Kersten, Simone Polla, Daniel L Weijers, Dilys Begtrup, Amber McWalter, Kirsty Ruiz, Anna Gabau, Elisabeth Morton, Jenny E V Griffith, Christopher Weiss, Karin Gamble, Candace Bartley, James Vernon, Hilary J Brunet, Kendra Ruivenkamp, Claudia Kant, Sarina G Kruszka, Paul Larson, Austin Afenjar, Alexandra Billette de Villemeur, Thierry Nugent, Kimberly DDD Study Raymond, F Lucy Venselaar, Hanka Demurger, Florence Soler-Alfonso, Claudia Li, Dong Bhoj, Elizabeth Hayes, Ian Hamilton, Nina Powell Ahmad, Ayesha Fisher, Rachel van den Born, Myrthe Willems, Marjolaine Sorlin, Arthur Delanne, Julian Moutton, Sebastien Christophe, Philippe Mau-Them, Frederic Tran Vitobello, Antonio Goel, Himanshu Massingham, Lauren Phornphutkul, Chanika Schwab, Jennifer Keren, Boris Charles, Perrine Vreeburg, Maaike De Simone, Lenika Hoganson, George Iascone, Maria Milani, Donatella Evenepoel, Lucie[UCL] Revencu, Nicole[UCL] Ward, D Isum Burns, Kaitlyn Krantz, Ian Raible, Sarah E Murrell, Jill R Wood, Kathleen Cho, Megan T van Bokhoven, Hans Muenke, Maximilian Kleefstra, Tjitske Bodmer, Rolf de Brouwer, Arjan P M (2020) American journal of human genetics — Vol. 107, no.1, p. 164-172 (2020)
    • Article de périodique
    STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
    Lehalle, Daphné Mosca-Boidron, Anne-Laure Begtrup, Amber Boute-Benejean, Odile Charles, Perrine Cho, Megan T Clarkson, Amanda Devinsky, Orrin Duffourd, Yannis Duplomb-Jego, Laurence Gérard, Bénédicte Jacquette, Aurélia Kuentz, Paul Masurel-Paulet, Alice McDougall, Carey Moutton, Sébastien Olivié, Hilde Park, Soo-Mi Rauch, Anita Revencu, Nicole[UCL] Rivière, Jean-Baptiste Rubin, Karol Simonic, Ingrid Shears, Deborah J Smol, Thomas Taylor Tavares, Ana Lisa Terhal, Paulien Thevenon, Julien Van Gassen, Koen Vincent-Delorme, Catherine Willemsen, Marjolein H Wilson, Golder N Zackai, Elaine Zweier, Christiane Callier, Patrick Thauvin-Robinet, Christel Faivre, Laurence (2017) Journal of Medical Genetics — Vol. 54, no.7, p. 479-488 (2017)