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Rima Nabbout

Showing results (291-300 of 310) with videos related to

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Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, 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 correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Epilepsia|July 1, 2015
Mutations in KCNT1 cause a spectrum of focal epilepsiesRikke S Møller, Sarah E Heron, Line H G Larsen, et al.
Epilepsia|July 7, 2017
Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task forceDanielle M Andrade, Anne S Bassett, Eduard Bercovici, et al.
Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literatureMathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.
Orphanet Journal of Rare Diseases|March 28, 2013
Experimental designs for small randomised clinical trials: an algorithm for choiceCatherine Cornu, Behrouz Kassai, Roland Fisch, et al.
Epilepsia Open|March 8, 2021
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesTobias Baumgartner, Mar Carreño, Rodrigo Rocamora, et al.
Nature Communications|November 23, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two yearsFranz Huschner, Jagoda Głowacka-Walas, James D Mills, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Pageof 31

Showing results (291-300 of 310) with videos related to

Sort By:
Pageof 31
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, 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 correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Epilepsia|July 1, 2015
Mutations in KCNT1 cause a spectrum of focal epilepsiesRikke S Møller, Sarah E Heron, Line H G Larsen, et al.
Epilepsia|July 7, 2017
Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task forceDanielle M Andrade, Anne S Bassett, Eduard Bercovici, et al.
Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literatureMathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.
Orphanet Journal of Rare Diseases|March 28, 2013
Experimental designs for small randomised clinical trials: an algorithm for choiceCatherine Cornu, Behrouz Kassai, Roland Fisch, et al.
Epilepsia Open|March 8, 2021
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesTobias Baumgartner, Mar Carreño, Rodrigo Rocamora, et al.
Nature Communications|November 23, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two yearsFranz Huschner, Jagoda Głowacka-Walas, James D Mills, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Pageof 31