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Publication date
2018 11 01
Authors
Helbig, KL Lauerer, RJ Bahr, JC Souza, IA Myers, CT Uysal, B Schwarz, N Gandini, MA Huang, S Keren, B Mignot, C Afenjar, A de Villemeur, TB Heron, D Nava, C Valence, S Buratti, J Fagerberg, CR Soerensen, KP Kibaek, M Kamsteeg, EJ Koolen, DA Gunning, B Schelhaas, HJ Kruer, MC Fox, J Bakhtiari, S Jarrar, R Padilla-Lopez, S Lindstrom, K Jin, SC Zeng, X Bilguvar, K Papavasileiou, A Xin, QH Zhu, CL Boysen, K Vairo, F Lanpher, BC Klee, EW Tillema, JM Payne, ET Cousin, MA Kruisselbrink, TM Wick, MJ Baker, J Haan, E Smith, N Corbett, MA MacLennan, AH Gecz, J Biskup, S Goldmann, E Rodan, LH Kichula, E Segal, E Jackson, KE Asamoah, A Dimmock, D McCarrier, J Botto, LD Filloux, F Tvrdik, T Cascino, GD Klingerman, S Neumann, C Wang, R Jacobsen, JC Nolan, MA Snell, RG Lehnert, K Sadleir, LG Anderlid, BM Kvarnung, M Guerrini, R Friez, MJ Lyons, MJ Leonhard, J Kringlen, G Casas, K El Achkar, CM Smith, LA Rotenberg, A Poduri, A Sanchis-Juan, A Carss, KJ Rankin, J Zeman, A Raymond, FL Blyth, M Kerr, B Ruiz, K Urquhart, J Hughes, I Banka, S Hedrich, UBS Scheffer, IE Helbig, I Zamponi, GW Lerche, H Mefford, HC
Group authors
Deciphering Dev Disorders Study
Author KI Usernames
Kvarnung, M|malkva
Pubmed ID
30343943
Journal
American journal of human genetics
Doctype
Article
KI Connection
Låg
Mesh SV
Barn Dyskinesi Epilepsi Förskolebarn Genetisk variation Kalciumkanaler, R-typ Katjontransportproteiner Kontraktur Kramp hos spädbarn Kvinnlig Manlig Megalencefali Människa Spädbarn Ungdomar Utvecklingsneurologiska störningar Vuxna
Mesh EN
Calcium Channels, R-Type Cation Transport Proteins Contracture Dyskinesias Epilepsy Genetic Variation Megalencephaly Neurodevelopmental Disorders Spasms, Infantile
First date
2018-12-07T17:45:46.876Z