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J. te Water Naudé

American Journal of Medical Genetics. Part A, Brain : a journal of neurology, Journal of Neurology Neurosurgery & Psychiatry, BMC Medical Genetics, Human Brain Mapping, American Journal of Human Genetics, Child's Nervous System, Pediatric emergency care, British Journal of Haematology Show more
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Role
Title
Level Year L/R
🐜 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
136 auth. Y. Crow, D. Chase, Johanna Lowenstein Schmidt, M. Szynkiewicz, Gabriella M. A. Forte, H. Gornall, A. Oojageer, Beverley H Anderson, A. Pizzino, G. Helman, M. Abdel-Hamid, G. Abdel-Salam, S. Ackroyd, A. Aeby, G. Agosta, ... Catherine Albin, Stavit Allon-Shalev, Montse Arellano, G. Ariaudo, V. Aswani, R. Babul‐Hirji, E. Baildam, N. Bahi-Buisson, Kathryn M Bailey, C. Barnerias, M. Barth, R. Battini, M. Beresford, G. Bernard, M. Bianchi, T. Billette de Villemeur, E. Blair, M. Bloom, A. Burlina, Maria Luisa Carpanelli, D. Carvalho, M. Castro‐Gago, A. Cavallini, Cristina Cereda, K. Chandler, D. Chitayat, A. Collins, C. Sierra Córcoles, N.J.V. Cordeiro, G. Crichiutti, Lyvia Dabydeen, R. Dale, S. D'Arrigo, C. de Goede, Corinne de Laet, Liesbeth De Waele, I. Denzler, I. Desguerre, K. Devriendt, M. Di Rocco, M. Fahey, E. Fazzi, C. Ferrie, António Figueiredo, B. Gener, C. Goizet, N. R. Gowrinathan, K. Gowrishankar, D. Hanrahan, B. Isidor, B. Kara, Nasaim Khan, M. King, E. Kirk, Ram Kumar, L. Lagae, P. Landrieu, H. Lauffer, V. Laugel, R. Piana, M. Lim, Jean-Pierre Lin, T. Linnankivi, M. Mackay, Daphna Marom, Charles Marques LourenḈo, S. McKee, I. Moroni, J. Morton, M. Moutard, Kevin Murray, R. Nabbout, S. Nampoothiri, N. Núñez-Enamorado, P. Oades, I. Olivieri, J. Ostergaard, B. Pérez-Dueñas, J. Prendiville, V. Ramesh, M. Rasmussen, L. Régal, F. Ricci, M. Rio, D. Rodriguez, A. Roubertie, E. Salvatici, K. Segers, Gyanranjan P. Sinha, D. Soler, R. Spiegel, T. Stödberg, R. Straussberg, K. Swoboda, M. Suri, U. Tacke, T. Tan, J. te Water Naudé, Keng Wee Teik, Maya Mary Thomas, M. Till, D. Tonduti, Enza Maria Valente, Rudy Noel Van Coster, M. S. van der Knaap, G. Vassallo, R. Vijzelaar, J. Vogt, G. Wallace, E. Wassmer, Hannah J. Webb, W. Whitehouse, Robyn N. Whitney, M. Zaki, S. Zuberi, J. Livingston, F. Rozenberg, P. Lebon, A. Vanderver, S. Orcesi, G. Rice 		8 2015
8
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🐜 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
15 auth. Marjan E. Steenweg, D. Ghezzi, T. Haack, T. Abbink, D. Martinelli, C. V. van Berkel, A. Bley, L. Diogo, E. Grillo, J. te Water Naudé, ... T. Strom, E. Bertini, H. Prokisch, M. S. van der Knaap, M. Zeviani 		7 2012
7
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🐜 Long-term outcome of paediatric-onset multiple sclerosis: a population-based study
10 auth. K. Harding, K. Liang, M. Cossburn, G. Ingram, C. Hirst, T. Pickersgill, ... J. te Water Naudé, M. Wardle, Y. Ben-Shlomo, N. Robertson 		6 2012
6
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🐜 Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
29 auth. A. Fry, E. Rees, Rose Thompson, K. Mantripragada, Penny Blake, Glyn Jones, S. Morgan, S. Jose, H. Mugalaasi, H. Archer, E. McCann, A. Clarke, Clare Taylor, S. Davies, F. Gibbon, ... J. te Water Naudé, L. Hartley, G. Thomas, C. White, J. Natarajan, R. Thomas, C. Drew, S. Chung, M. Rees, P. Holmans, M. Owen, G. Kirov, D. Pilz, M. Kerr 		5 2016
5
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🐜 Resting‐state oscillatory dynamics in sensorimotor cortex in benign epilepsy with centro‐temporal spikes and typical brain development
12 auth. Loes Koelewijn, K. Hamandi, L. Brindley, M. Brookes, B. Routley, S. Muthukumaraswamy, ... Natalie Williams, Marie-Annick Thomas, A. Kirby, J. te Water Naudé, F. Gibbon, Krishna D. Singh 		5 2015
5
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🐜 Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
22 auth. A. Fry, Christopher Marra, Anna V. Derrick, W. O. Pickrell, Adam T. Higgins, J. te Water Naudé, M. McClatchey, S. Davies, K. Metcalfe, H. Tan, ... R. Mohanraj, S. Avula, Denise Williams, L. Brady, R. Mesterman, M. Tarnopolsky, Yuehua Zhang, Ying Yang, Xiaodong Wang, M. Rees, Mitchell Goldfarb, S. Chung 		4 2020
4
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🐬 Surgical management of raised intracranial pressure secondary to otogenic infection and venous sinus thrombosis
R. Bevan, C. Patel, I. Bhatti, J. te Water Naudé, F. Gibbon, P. Leach 		2 2019
2
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🐬 Lazarus Syndrome - Challenges Created by Pediatric Autoresuscitation.
S. Mullen, Z. Roberts, D. Tuthill, L. Owens, J. te Water Naudé, S. Maguire 		2 2018
2
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🐬 Neuromyelitis optica complicating autoimmune lymphoproliferative syndrome in a 4‐year‐old girl
N. Cooper, J. te Water Naudé, P. Connor 		2 2011
2
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