Julian Schubert
202  Ergebnisse:
Personensuche X
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1

Loss-of-function variants in the KCNQ5 gene are implicated ..:

Johanna Krüger ; Julian Schubert ; Josua Kegele...
http://www.sciencedirect.com/science/article/pii/S2352396422004261.  , 2022
 
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Genotype-phenotype correlations in SCN8A -related disorders..:

Johannesen, Katrine M ; Liu, Yuanyuan ; Koko, Mahmoud...
https://pure.au.dk/portal/da/publications/genotypephenotype-correlations-in-scn8arelated-disorders-reveal-prognostic-and-therapeutic-implications(422fc9d3-1def-4398-b769-36ea8060c281).html.  , 2022
 
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8

Loss-of-function variants in the KCNQ5 gene are implicated ..:

Krüger, Johanna ; Schubert, Julian ; Kegele, Josua...
https://www.sciencedirect.com/science/article/pii/S2352396422004261.  , 2022
 
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10

Loss of function variants in the KCNQ5 gene are associated ..:

Krueger, Johanna ; Schubert, Julian ; Kegele, Josua...
https://www.medrxiv.org/content/10.1101/2021.04.20.21255696v1.  , 2021
 
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12

Clinical spectrum of STX1B-related epileptic disorders:

Wolking, Stefan ; May, Patrick ; Mei, Davide...
Wolking , S , May , P , Mei , D , Møller , R S , Balestrini , S , Helbig , K L , Altuzarra , C D , Chatron , N , Kaiwar , C , Stöhr , K , Widdess-Walsh , P , Mendelsohn , B A , Numis , A , Cilio , M R , Van Paesschen , W , Svendsen , L L , Oates , S , Hughes , E , Goyal , S , Brown , K , Sifuentes Saenz , M , Dorn , T , Muhle , H , Pagnamenta , A T , Vavoulis , D V , Knight , S J L , Taylor , J C , Canevini , M P , Darra , F , Gavrilova , R H , Powis , Z , Tang , S , Marquetand , J , Armstrong , M , McHale , D , Klee , E W , Kluger , G J , Lowenstein , D H , Weckhuysen , S , Pal , D K , Helbig , I , Guerrini , R , Thomas , R H , Rees , M I , Lesca , G , Sisodiya , S M , Weber , Y G , Lal , D , Marini , C , Lerche , H & Schubert , J 2019 , ' Clinical spectrum of STX1B-related epileptic disorders ' , Neurology , vol. 92 , no. 11 , pp. e1238-e1249 . https://doi.org/10.1212/WNL.0000000000007089.  , 2019
 
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Supplement_Figures:

Wolking, Stefan ; May, Patrick ; Mei, Davide...
doi:10.5061/dryad.cf0hj73.  , 2019
 
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