Oates, Stephanie
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2

Intolerance to quinidine in a n-of-1 trial for KCNT1 associ..:

Hughes, Elaine ; Oates, Stephanie ; Pal, Deb K
Seizure: European Journal of Epilepsy.  103 (2022)  - p. 46-50 , 2022
 
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Complementing the phenotypical spectrum of TUBA1A tubulinop..:

Schröter, Julian ; Popp, Bernt ; Brennenstuhl, Heiko...
European Journal of Human Genetics.  30 (2022)  3 - p. 298-306 , 2022
 
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An overview of intra-articular therapy for mucopolysacchari..:

Auclair, Dyane ; Ketteridge, David ; Oates, Stephanie..
Journal of Pediatric Rehabilitation Medicine.  3 (2010)  1 - p. 3-6 , 2010
 
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Complementing the phenotypical spectrum of TUBA1A tubulinop..:

Schröter, Julian ; Popp, Bernt ; Brennenstuhl, Heiko...
Schröter , J , Popp , B , Brennenstuhl , H , Döring , J H , Donze , S H , Bijlsma , E K , van Haeringen , A , Huhle , D , Jestaedt , L , Merkenschlager , A , Arelin , M , Gräfe , D , Neuser , S , Oates , S , Pal , D K , Parker , M J , Lemke , J R , Hoffmann , G F , Kölker , S , Harting , I & Syrbe , S 2022 , ' Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies ' , European Journal of Human Genetics , vol. 30 , no. 3 , pp. 298-306 . https://doi.org/10.1038/s41431-021-01027-0.  , 2022
 
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Complementing the phenotypical spectrum of TUBA1A tubulinop..:

Schröter, Julian ; Popp, Bernt ; Brennenstuhl, Heiko...
Schröter , J , Popp , B , Brennenstuhl , H , Döring , J H , Donze , S H , Bijlsma , E K , van Haeringen , A , Huhle , D , Jestaedt , L , Merkenschlager , A , Arelin , M , Gräfe , D , Neuser , S , Oates , S , Pal , D K , Parker , M J , Lemke , J R , Hoffmann , G F , Kölker , S , Harting , I & Syrbe , S 2022 , ' Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies ' , European Journal of Human Genetics , vol. 30 , no. 3 , pp. 298-306 . https://doi.org/10.1038/s41431-021-01027-0.  , 2022
 
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ZMYND11 variants are a novel cause of centrotemporal and ge..:

Oates, Stephanie ; Absoud, Michael ; Goyal, Sushma...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14023.  , 2021
 
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12

ZMYND11 variants are a novel cause of centrotemporal and ge..:

Oates, Stephanie ; Absoud, Michael ; Goyal, Sushma...
Oates , S , Absoud , M , Goyal , S , Bayley , S , Baulcomb , J , Sims , A , Riddett , A , Allis , K , Brasch-Andersen , C , Balasubramanian , M , Bai , R , Callewaert , B , Hüffmeier , U , Le Duc , D , Radtke , M , Korff , C , Kennedy , J , Low , K , Møller , R S , Nielsen , J E K , Popp , B , Quteineh , L , Rønde , G , Schönewolf-Greulich , B , Shillington , A , Taylor , M R G , Todd , E , Torring , P M , DMSc , Z T M D P D , Vasileiou , G , Yates , T M , Zweier , C , Rosch , R , Basson , M A & Pal , D K 2021 , ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ' , Clinical Genetics , vol. 100 , no. 4 , pp. 412-429 . https://doi.org/10.1111/cge.14023.  , 2021
 
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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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