E-LIB Suche - Ergebnisse für: Djemie, T

1

V28. KCNA2 mutations cause epileptic encephalopathy by gain..:

Hedrich, U.B.S. ; Syrbe, S. ; Riesch, E....
Clinical Neurophysiology. 126 (2015) 8 - p. e80 , 2015

2

Diagnostic implications of genetic copy number variation in..:

Coppola, A ; Cellini, E ; Stamberger, H...
https://discovery.ucl.ac.uk/id/eprint/10071080/1/Coppola_et_al-2019-Epilepsia.pdf. , 2019

Link: https://discovery.ucl.ac..

3

Diagnostic implications of genetic copy number variation in..:

Coppola A ; Cellini E ; Stamberger H...
info:eu-repo/semantics/altIdentifier/pmid/30866059. , 2019

Link: http://hdl.handle.net/11..

4

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

Djemie, T ; Weckhuysen, S ; von Spiczak, S...
issn:2324-9269. , 2016

Link: http://hdl.handle.net/11..

5

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

de Kovel, CGF ; Brilstra, EH ; Van Kempen, MJA...
https://discovery.ucl.ac.uk/id/eprint/10073798/1/Kovel_et_al-2016-Molecular_Genetics_%26_Genomic_Medicine.pdf. , 2016

Link: https://discovery.ucl.ac..

6

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

Djémié, T ; Weckhuysen, S ; von Spiczak, S...
https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdf. , 2016

Link: https://discovery.ucl.ac..

7

De novo loss-of-function mutations in CHD2 cause a fever-se..:

Suls, A ; Jaehn, J. A ; Kecskés, A...
http://orbilu.uni.lu/handle/10993/27271. , 2013

Link: http://orbilu.uni.lu/han..

8

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/..

9

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..

10

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..

11

Diagnostic implications of genetic copy number variation in..:

Coppola A1 ; 2 3 ; Cellini E4...
info:eu-repo/semantics/altIdentifier/pmid/30866059. , 2019

Link: http://hdl.handle.net/11..

12

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

Link: https://hdl.handle.net/1..

13

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

Mulhern, Maureen S ; Stumpel, Constance ; Stong, Nicholas...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249120/. , 2018

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

14

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

Djémié, Tania ; Weckhuysen, Sarah ; von Spiczak, Sarah...
10.1002/mgg3.217. , 2017

Link: http://hdl.handle.net/10..

15

Simultaneous impairment of neuronal and metabolic function ..:

Dejanovic, Borislav ; Djémié, Tania ; Grünewald, Nora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709744/. , 2017

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