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Rima Nabbout

Showing results (261-270 of 310) with videos related to

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Epilepsia|March 29, 2021
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomesJessie De Ridder, Birgit Verhelle, Jan Vervisch, et al.
Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.
Epilepsia Open|January 5, 2026
Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARESébile Tchaicha, Stéphane Auvin, Sándor Beniczky, et al.
Frontiers in Neurology|November 12, 2020
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG CharacteristicsJessie De Ridder, Mario Lavanga, Birgit Verhelle, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complexJohn C Kingswood, Paolo Bruzzi, Paolo Curatolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP studyBarbara Ogórek, Lana Hamieh, Hanna M Hulshof, et al.
Orphanet Journal of Rare Diseases|July 7, 2021
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)Matthias Sauter, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|September 27, 2021
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA RegistryRima Nabbout, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|October 12, 2020
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal AngiomyolipomasJ Chris Kingswood, Elena Belousova, Mirjana P Benedik, et al.
Pageof 31

Showing results (261-270 of 310) with videos related to

Sort By:
Pageof 31
Epilepsia|March 29, 2021
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomesJessie De Ridder, Birgit Verhelle, Jan Vervisch, et al.
Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.
Epilepsia Open|January 5, 2026
Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARESébile Tchaicha, Stéphane Auvin, Sándor Beniczky, et al.
Frontiers in Neurology|November 12, 2020
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG CharacteristicsJessie De Ridder, Mario Lavanga, Birgit Verhelle, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complexJohn C Kingswood, Paolo Bruzzi, Paolo Curatolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP studyBarbara Ogórek, Lana Hamieh, Hanna M Hulshof, et al.
Orphanet Journal of Rare Diseases|July 7, 2021
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)Matthias Sauter, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|September 27, 2021
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA RegistryRima Nabbout, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|October 12, 2020
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal AngiomyolipomasJ Chris Kingswood, Elena Belousova, Mirjana P Benedik, et al.
Pageof 31