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Epilepsy Research
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November 23, 2021
Meeting report: EpiXchange II brings together European epilepsy research projects to discuss latest advances
David C Henshall, Renzo Guerrini, Sergiusz Jozwiak, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Carla Marini, Katia Hardies, Tiziana Pisano, et al.
Orphanet Journal of Rare Diseases
|
February 16, 2013
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics
|
October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Annals of Neurology
|
October 12, 2013
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy
Maurizio De Fusco, Riccardo Vago, Pasquale Striano, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
Periventricular nodular heterotopia in Smith-Magenis syndrome
Valeria Capra, Roberta Biancheri, Giovanni Morana, et al.
Plos One
|
October 3, 2013
Somatic overgrowth predisposes to seizures in autism spectrum disorders
Giulia Valvo, Sara Baldini, Francesca Brachini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ
Lorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
Epilepsia Open
|
February 25, 2026
Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability
Giovanni B Dell'Isola, Alice Muda, Lucio Giordano, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
April 26, 2024
Severe A(H1N1)pdm09 influenza acute encephalopathy outbreak in children in Tuscany, Italy, December 2023 to January 2024
Luca Bartolini, Silvia Ricci, Chiara Azzari, et al.
Page
of 62
Search research articles
Search
Showing results (301-310 of 611) with videos related to
Sort By:
Page
of 62
Epilepsy Research
|
November 23, 2021
Meeting report: EpiXchange II brings together European epilepsy research projects to discuss latest advances
David C Henshall, Renzo Guerrini, Sergiusz Jozwiak, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Carla Marini, Katia Hardies, Tiziana Pisano, et al.
Orphanet Journal of Rare Diseases
|
February 16, 2013
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics
|
October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Annals of Neurology
|
October 12, 2013
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy
Maurizio De Fusco, Riccardo Vago, Pasquale Striano, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
Periventricular nodular heterotopia in Smith-Magenis syndrome
Valeria Capra, Roberta Biancheri, Giovanni Morana, et al.
Plos One
|
October 3, 2013
Somatic overgrowth predisposes to seizures in autism spectrum disorders
Giulia Valvo, Sara Baldini, Francesca Brachini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ
Lorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
Epilepsia Open
|
February 25, 2026
Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability
Giovanni B Dell'Isola, Alice Muda, Lucio Giordano, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
April 26, 2024
Severe A(H1N1)pdm09 influenza acute encephalopathy outbreak in children in Tuscany, Italy, December 2023 to January 2024
Luca Bartolini, Silvia Ricci, Chiara Azzari, et al.
Page
of 62