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Number of items: 6.

Tran Mau-Them, F; Guibaud, L; Duplomb, L; Keren, B; Lindstrom, K; Marey, I; Mochel, F; et al; Zweier, M; Schmitt-Mechelke, T (2018). De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genetics in Medicine:Epub ahead of print.

Holman, S K; Daniel, P; Jenkins, Z A; Herron, R L; Morgan, T; Savarirayan, R; Chow, C W; Bohring, A; Mosel, A; Lacombe, D; Steiner, B; Schmitt-Mechelke, T; Schroter, B; Raas-Rothschild, A; Miñaur, S G; Porteous, M; Parker, M; Quarrell, O; Tapon, D; Cormier-Daire, V; Mansour, S; Nash, R; Bindoff, L A; Fiskerstrand, T; Robertson, S P (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A, 155(10):2397-2408.

Grunt, S; Wingeier, K; Wehrli, E; Boltshauser, E; Capone, A; Fluss, J; Gubser-Mercati, D; Jeannet, P Y; Keller, E; Marcoz, J P; Schmitt-Mechelke, T; Weber, P; Weissert, M; Steinlin, M (2010). Cerebral sinus venous thrombosis in Swiss children. Developmental Medicine and Child Neurology, 52(12):1145-1150.

Buerki, S; Roellin, K; Remonda, L; Mercati, D G; Jeannet, P Y; Keller, E; Luetschg, J; Menache, C; Ramelli, G P; Schmitt-Mechelke, T; Weissert, M; Boltshauser, E; Steinlin, M (2010). Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies. Developmental Medicine and Child Neurology, 52(11):1033-1037.

Wohlrab, G; Leiba, H; Kästle, R; Ramelli, G; Schmitt-Mechelke, T; Schmitt, B; Landau, K (2009). Vigabatrin therapy in infantile spasms: solving one problem and inducing another? Epilepsia, 50(8):2006-2008.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

This list was generated on Fri Feb 22 10:31:44 2019 CET.