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Epilepsia
|
October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Epilepsia
|
June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
American Journal of Human Genetics
|
February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.
BMJ (Clinical Research Ed.)
|
January 6, 2026
Oral ivermectin versus 5% permethrin cream to treat children and adults with classic scabies: multicentre, assessor blinded, cluster randomised clinical trial
Franck Boralevi, Guillaume Simon, Charlotte Bernigaud, et al.
Neurology
|
May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome
Florence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
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of 4
Search research articles
Search
Showing results (31-40 of 37) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 37 results.
Epilepsia
|
October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Epilepsia
|
June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
American Journal of Human Genetics
|
February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.
BMJ (Clinical Research Ed.)
|
January 6, 2026
Oral ivermectin versus 5% permethrin cream to treat children and adults with classic scabies: multicentre, assessor blinded, cluster randomised clinical trial
Franck Boralevi, Guillaume Simon, Charlotte Bernigaud, et al.
Neurology
|
May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome
Florence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
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of 4