Results 181 to 188 of about 4,015 (188)

P090 Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy and KCNJ10 mutations

European Journal of Paediatric Neurology, 2009
R. Arora, H. Cross, S. Feather, H.C. Stanescu, A.A. Zdebik, W. van't Hoff, A. Dobbie, R. Warth, E. Sheridan, R. Kleta, D. Bockenhauer   +10 more
openaire   +1 more source

Faculty Opinions recommendation of Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2009
Dominique Eladari, Bharath Wootla
  +5 more sources

KCNJ10 gene mutation in an 8-year-old boy with seizures

Acta Neurologica Belgica, 2012
Kara, BÜLENT, Aslanger, AK, Ekici, B, Scholl, U, Ipekçi, B   +4 more
openaire   +3 more sources

The EAST Syndrome andKCNJ10Mutations

New England Journal of Medicine, 2009
openaire   +1 more source

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

Yearbook of Pediatrics, 2011
openaire   +1 more source

Corrigendum to “Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene” [Gene 536 (2014) 247–253]

Gene, 2014
Nagaraja M. Phani, Shreeshakala Acharya, Seethu Xavy, Nalini Bhaskaranand, Manoj K. Bhat, Aditya Jain, Padmalatha S. Rai, Kapaettu Satyamoorthy   +7 more
openaire   +1 more source

P246 – 1918 EAST syndrome in a European child with KCNJ10 mutation

European Journal of Paediatric Neurology, 2013
A Foska, M Nagel, J Ioannou, G Dervenoulas, A Papavasiliou   +4 more
openaire   +1 more source

Les variants faux-sens rares dans KCNJ10 sont associés aux dyskinésies paroxystiques kinésigéniques

Revue Neurologique
Thomas Wirth, Emmanuel Flamand-Roze, Clarisse Delvallée, Trouillard Orianne, Amélie Piton, Aurélie Méneret, Mathieu Anheim   +6 more
openaire   +1 more source