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The Journal of Allergy and Clinical Immunology
|
January 3, 2013
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
Neurology. Genetics
|
September 14, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study
Anna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Neurosurgery
|
August 30, 2020
Focal Cortical Dysplasia IIIa in Hippocampal Sclerosis-Associated Epilepsy: Anatomo-Electro-Clinical Profile and Surgical Results From a Multicentric Retrospective Study
Massimo Cossu, Piergiorgio d'Orio, Carmen Barba, et al.
Neurology
|
March 31, 2026
Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group Cohort
Carla Marini, Anna Rosati, Lucia Fusco, et al.
Epilepsy & Behavior : E&B
|
March 12, 2018
Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157]
Carmen Barba, Nicola Specchio, Renzo Guerrini, et al.
Epilepsia
|
October 6, 2015
Diagnostic methods and treatment options for focal cortical dysplasia
Renzo Guerrini, Michael Duchowny, Prasanna Jayakar, et al.
Human Mutation
|
December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Epilepsy & Behavior : E&B
|
September 4, 2017
Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study
Carmen Barba, Nicola Specchio, Renzo Guerrini, et al.
Brain : a Journal of Neurology
|
March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
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of 62
Search research articles
Search
Showing results (451-460 of 611) with videos related to
Sort By:
Page
of 62
The Journal of Allergy and Clinical Immunology
|
January 3, 2013
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
Neurology. Genetics
|
September 14, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study
Anna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Neurosurgery
|
August 30, 2020
Focal Cortical Dysplasia IIIa in Hippocampal Sclerosis-Associated Epilepsy: Anatomo-Electro-Clinical Profile and Surgical Results From a Multicentric Retrospective Study
Massimo Cossu, Piergiorgio d'Orio, Carmen Barba, et al.
Neurology
|
March 31, 2026
Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group Cohort
Carla Marini, Anna Rosati, Lucia Fusco, et al.
Epilepsy & Behavior : E&B
|
March 12, 2018
Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157]
Carmen Barba, Nicola Specchio, Renzo Guerrini, et al.
Epilepsia
|
October 6, 2015
Diagnostic methods and treatment options for focal cortical dysplasia
Renzo Guerrini, Michael Duchowny, Prasanna Jayakar, et al.
Human Mutation
|
December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Epilepsy & Behavior : E&B
|
September 4, 2017
Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study
Carmen Barba, Nicola Specchio, Renzo Guerrini, et al.
Brain : a Journal of Neurology
|
March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
Page
of 62