Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Autor: Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema

Publikováno v: Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group

Contains fulltext : 290808.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epig

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https://repository.ubn.ru.nl/handle/2066/290808

Kognmeve Stijl en Onderwijsdifferentiatie

Autor: P. van der Tuin, M. van Es, A.J. van Essen

Publikováno v: Leerderskenmerken. 37:35-44

This article reports research into the relationschips between four aspects of cognitve style [field(in)dependency, habit-formation, sensitivity to interference, and creativity], and achievement with regard to grammatical competence and oral communica

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https://doi.org/10.1075/ttwia.37.04tui

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Nederlandse Leerboeken Voor de Fonetiek en de Uitspraak Van Het Engels

Autor: A.J. van Essen, T. de Graaf, J. Posthumus

Publikováno v: Toegepaste Taalwetenschap in Artikelen. 20:123-154

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33f83da6e9d23e649fd5bfae838bdc2d
https://doi.org/10.1075/ttwia.20.12ess