E-LIB Suche - Ergebnisse für: Djémié, Tania

1

Biallelic gephyrin variants lead to impaired GABAergic inhi..:

Macha, Arthur ; Liebsch, Filip ; Fricke, Steffen...
Human Molecular Genetics. 31 (2021) 6 - p. 901-913 , 2021

Link: https://doi.org/10.1093/..

2

Diagnostic implications of genetic copy number variation in..:

Coppola, Antonietta ; Cellini, Elena ; Stamberger, Hannah...
Epilepsia. 60 (2019) 4 - p. 689-706 , 2019

Link: https://doi.org/10.1111/..

3

NBEA: Developmental disease gene with early generalized epi..:

Mulhern, Maureen S. ; Stumpel, Constance ; Stong, Nicholas...
Annals of Neurology. 84 (2018) 5 - p. 788-795 , 2018

Link: https://doi.org/10.1002/..

4

Simultaneous impairment of neuronal and metabolic function ..:

Dejanovic, Borislav ; Djémié, Tania ; Grünewald, Nora...
EMBO Molecular Medicine. 9 (2017) 12 - p. 1764-1764 , 2017

Link: https://doi.org/10.15252..

5

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

Link: https://doi.org/10.1016/..

6

Pitfalls in genetic testing: the story of missed SCN1A muta..:

Djémié, Tania ; Weckhuysen, Sarah ; von Spiczak, Sarah...
Molecular Genetics & Genomic Medicine. 4 (2016) 4 - p. 457-464 , 2016

Link: https://doi.org/10.1002/..

7

Loss of SYNJ1 dual phosphatase activity leads to early onse..:

Hardies, Katia ; Cai, Yiying ; Jardel, Claude...
Brain. 139 (2016) 9 - p. 2420-2430 , 2016

Link: https://doi.org/10.1093/..

8

Targeted sequencing of 351 candidate genes for epileptic en..:

de Kovel, Carolien G.F. ; Brilstra, Eva H. ; van Kempen, Marjan J.A....
Molecular Genetics & Genomic Medicine. 4 (2016) 5 - p. 568-580 , 2016

Link: https://doi.org/10.1002/..

9

Phenotypic spectrum ofGABRA1: From generalized epilepsies t..:

Johannesen, Katrine ; Marini, Carla ; Pfeffer, Siona...
Neurology. 87 (2016) 11 - p. 1140-1151 , 2016

Link: https://doi.org/10.1212/..

10

De novo loss- or gain-of-function mutations in KCNA2 cause ..:

EuroEPINOMICS RES ; Syrbe, Steffen ; Hedrich, Ulrike B S...
Nature Genetics. 47 (2015) 4 - p. 393-399 , 2015

Link: https://doi.org/10.1038/..

11

The phenotypic spectrum ofSCN8Aencephalopathy:

Larsen, Jan ; Carvill, Gemma L. ; Gardella, Elena...
Neurology. 84 (2015) 5 - p. 480-489 , 2015

Link: https://doi.org/10.1212/..

12

Simultaneous impairment of neuronal and metabolic function ..:

Dejanovic, Borislav ; Djémié, Tania ; Grünewald, Nora...
EMBO Molecular Medicine. 7 (2015) 12 - p. 1580-1594 , 2015

Link: https://doi.org/10.15252..

13

Recessive loss-of-function mutations in AP4S1 cause mild fe..:

Hardies, Katia ; May, Patrick ; Djémié, Tania...
Human Molecular Genetics. 24 (2014) 8 - p. 2218-2227 , 2014

Link: https://doi.org/10.1093/..

14

Diagnostic implications of genetic copy number variation in..:

Coppola, Antonietta ; Cellini, Elena ; Stamberger, Hannah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488157/. , 2019

Link: http://www.ncbi.nlm.nih...

15

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

Link: https://portal.findresea..