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Neurology
|
January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Neurology
|
August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
Katrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Neurology
|
July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>
Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Seizure
|
February 24, 2018
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial
Moritz Tacke, Ingo Borggraefe, Lucia Gerstl, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Brain : a Journal of Neurology
|
August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Nature Genetics
|
July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
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Search research articles
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Showing results (81-90 of 90) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 90 results.
Neurology
|
January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Neurology
|
August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
Katrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Neurology
|
July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>
Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Seizure
|
February 24, 2018
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial
Moritz Tacke, Ingo Borggraefe, Lucia Gerstl, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Brain : a Journal of Neurology
|
August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Nature Genetics
|
July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
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of 9