Djémié, Tania
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4

Diagnostic implications of genetic copy number variation in..:

Coppola, Antonietta ; Cellini, Elena ; Stamberger, Hannah...
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.  , 2019
 
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NBEA:Developmental disease gene with early generalized epil..:

Mulhern, Maureen S ; Stumpel, Constance ; Stong, Nicholas...
https://research.rug.nl/en/publications/156df0a8-8a8d-4d34-ae95-b8d35eff61f3.  , 2018
 
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8

De novo variants in neurodevelopmental disorders with epile..:

Heyne, Henrike O ; Singh, Tarjinder ; Stamberger, Hannah...
Heyne , H O , Singh , T , Stamberger , H , Abou Jamra , R , Caglayan , H , Craiu , D , De Jonghe , P , Guerrini , R , Helbig , K L , Koeleman , B P C , Kosmicki , J A , Linnankivi , T , May , P , Muhle , H , Møller , R S , Neubauer , B A , Palotie , A , Pendziwiat , M , Striano , P , Tang , S , Wu , S , Afawi , Z , De Kovel , C , Dimova , P , Djémié , T , Endziniene , M , Hoffman-Zacharska , D , Jähn , J , Korff , C , Lehesjoki , A E , Marini , C , Müller , S H , Pal , D , Schwarz , N , Selmer , K , Serratosa , J , Stephani , U , Štěrbová , K , Suls , A , Syrbe , S , Talvik , I , Tang , S , Von Spiczak , S , Zara , F , Poduri , A , Weber , Y G , Weckhuysen , S , Sisodiya , S M , Daly , M J & Helbig , I 2018 , ' De novo variants in neurodevelopmental disorders with epilepsy ' , Nature Genetics , vol. 50 , no. 7 , pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7.  , 2018
 
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De Novo Mutations in Synaptic Transmission Genes Including ..:

Appenzeller, Silke ; Balling, Rudi ; Barisic, Nina...
The American Journal of Human Genetics.  100 (2017)  1 - p. 179 , 2017
 
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