Výsledky vyhledávání - "Djemie, Tania"

Diagnostic implications of genetic copy number variation in epilepsy plus

Autor: Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Moller, Rikke S., Hjalgrim, Helle

Publikováno v: Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal, D, Djemie, T, Bartnik-Glaska, M, Ceulemans, B, Cross, J H, Deconinck, T, De Masi, S, Dorn, T, Guerrini, R, Hoffman-Zacharska, D, Kooy, F, Lagae, L, Lench, N, Lemke, J R, Lucenteforte, E, Madia, F, Mefford, H C, Morrogh, D, Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, J R, Van Esch, H, Van Paesschen, W, Waters, J J, Weckhuysen, S, Zara, F, Jonghe, P D, Sisodiya, S M, Marini, C, EuroEPINOMICS RES Consortium, Moller, R S & Hjalgrim, H 2019, ' Diagnostic implications of genetic copy number variation in epilepsy plus ', Epilepsia, vol. 60, no. 4, pp. 689-706 . https://doi.org/10.1111/epi.14683

Objective: Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNV

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