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المؤلفون: 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
المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Human genetics
المصدر: 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 Groupمصطلحات موضوعية: MDEMs, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KDM2B, Methylation signatures, Neurodevelopmental disorders, Human Genetics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808 -
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المؤلفون: Tomi L. Toler, Timothy W. Yu, William B. Dobyns, Marcia C. Willing, Karen W. Gripp, Rolph Pfundt, Muhammad Iqbal, Xiadong Wang, Lance H. Rodan, Ada Hamosh, Cynthia S. Gubbels, Janice Baker, Thatjana Gardeitchik, Jenny Lai, André Reis, Fleur Vansenne, Jennifer E. Posey, Paranchai Boonsawat, Mathilde Nizon, Sébastien Küry, Jill R. Murrell, Julian L. Ambrus, Yunhong Wu, Laura A. Baker, Aubrie Soucy, Severine Audebert-Bellanger, Ellen van Binsbergen, Thomas Courtin, Guiseppe Zampino, Caleb P. Bupp, Holly K. Harris, Alan H. Beggs, Giulia Pascolini, Catharina (Nienke) M.L. Volker-Touw, Bert B.A. de Vries, Casie A. Genetti, La Donna L. Immken, Paola Grammatico, Martin Jakob Larsen, Sylvia Redon, Kévin Uguen, Reza Asadollahi, Madeleine Fannemel, Catherine Buchanan, Boris Keren, George E. Tiller, Lilian L. Cohen, Tojo Nakayama, Laurence E. Walsh, Iqra Ghulam Rasool, Audrey Labalme, Koen L.I. van Gassen, Pankaj B. Agrawal, Boxun Zhao, Gaetan Lesca, Steffan Syrbe, Kimberly A. Aldinger, Emanuele Agolini, Maria Kibaek, Muhammad Yasir Zahoor, Peter D. Turnpenny, Antonio Novelli, Ines Brösse, Claude Férec, Jorune Balciuniene, Nikoleta Argyrou, Victoria Suslovitch, Alice Poisson, Anita Rauch, Katelyn Payne, Christina Fagerberg, Cyril Mignot, Christopher Gray, Anne Blomhoff, Carolyn D. Applegate, Cornelia Kraus, Rami Abou Jamra, Marleen Simon, Martin Broly, Cara M. Skraban, Emily Fassi
المصدر: Genetics in Medicine, 23(6), 1028-1040. Nature Publishing Group
Genetics in Medicine, 23, 6, pp. 1028-1040
Genetics in Medicine, 23, 1028-1040
Genet Med
Harris, H K, Nakayama, T, Lai, J, Zhao, B, Argyrou, N, Gubbels, C S, Soucy, A, Genetti, C A, Suslovitch, V, Rodan, L H, Tiller, G E, Lesca, G, Gripp, K W, Asadollahi, R, Hamosh, A, Applegate, C D, Turnpenny, P D, Simon, M E H, Volker-Touw, C M L, Gassen, K L I V, Binsbergen, E V, Pfundt, R, Gardeitchik, T, Vries, B B A D, Immken, L L, Buchanan, C, Willing, M, Toler, T L, Fassi, E, Baker, L, Vansenne, F, Wang, X, Ambrus, J L, Fannemel, M, Posey, J E, Agolini, E, Novelli, A, Rauch, A, Boonsawat, P, Fagerberg, C R, Larsen, M J, Kibaek, M, Labalme, A, Poisson, A, Payne, K K, Walsh, L E, Aldinger, K A, Balciuniene, J, Skraban, C, Gray, C, Murrell, J, Bupp, C P, Pascolini, G, Grammatico, P, Broly, M, Küry, S, Nizon, M, Rasool, I G, Zahoor, M Y, Kraus, C, Reis, A, Iqbal, M, Uguen, K, Audebert-Bellanger, S, Ferec, C, Redon, S, Baker, J, Wu, Y, Zampino, G, Syrbe, S, Brosse, I, Jamra, R A, Dobyns, W B, Cohen, L L, Blomhoff, A, Mignot, C, Keren, B, Courtin, T, Agrawal, P B, Beggs, A H & Yu, T W 2021, ' Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 6, pp. 1028-1040 . https://doi.org/10.1038/s41436-021-01114-zمصطلحات موضوعية: Adult, 0301 basic medicine, Autism Spectrum Disorder, Regulatory Factor X Transcription Factors, 030105 genetics & heredity, Biology, Article, FRX, autism, intellectual disability, 03 medical and health sciences, Intellectual Disability, Ciliogenesis, Intellectual disability, mental disorders, medicine, Humans, Attention deficit hyperactivity disorder, Autistic Disorder, Gene, Genetics (clinical), Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Phenotype, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, Autism spectrum disorder, Autism, RFX3, Transcription Factors
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