Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Jacob Bie Granild-Jensen"'
Autor:
Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte
Publikováno v:
Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373
Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8c8c6faa9e2b5a65e17855559602f1
https://doi.org/10.1038/s41436-020-00988-9
https://doi.org/10.1038/s41436-020-00988-9
