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Therapeutic Advances in Rare Disease
|
March 5, 2026
The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis
Gerry Nesbitt, Alexandra Curley
International Journal of Medical Informatics
|
May 15, 2012
The Epilepsy Phenome/Genome Project (EPGP) informatics platform
Gerry Nesbitt, Kevin McKenna, Vickie Mays, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 18, 2025
Impact of non-seizure outcomes and caregiver priorities for young people with severe neurodevelopmental encephalopathy with or without epilepsy: A community survey
Anne T Berg, Mary Wojnaroski, Natasha N Ludwig, et al.
Neurology. Clinical Practice
|
May 8, 2025
Gross Motor Function in Individuals With SCN2A-Related Disorders: The Clinical Trial Readiness Study
Anne T Berg, Aaron J Kaat, Katherine Paltell, et al.
Epilepsy & Behavior : E&B
|
August 8, 2020
Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework
Anne T Berg, Deborah Gaebler-Spira, Greta Wilkening, et al.
Neurology. Clinical Practice
|
October 23, 2024
Assessing Communication Impairments in a Rare Neurodevelopmental Disorder: The <i>SCN2A</i> Clinical Trials Readiness Study
Anne T Berg, Amanda N Nili, Lindsey Evans, et al.
Brain : a Journal of Neurology
|
April 23, 2024
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
Anne T Berg, Christopher H Thompson, Leah Schust Myers, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Therapeutic Advances in Rare Disease
|
March 5, 2026
The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis
Gerry Nesbitt, Alexandra Curley
International Journal of Medical Informatics
|
May 15, 2012
The Epilepsy Phenome/Genome Project (EPGP) informatics platform
Gerry Nesbitt, Kevin McKenna, Vickie Mays, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 18, 2025
Impact of non-seizure outcomes and caregiver priorities for young people with severe neurodevelopmental encephalopathy with or without epilepsy: A community survey
Anne T Berg, Mary Wojnaroski, Natasha N Ludwig, et al.
Neurology. Clinical Practice
|
May 8, 2025
Gross Motor Function in Individuals With SCN2A-Related Disorders: The Clinical Trial Readiness Study
Anne T Berg, Aaron J Kaat, Katherine Paltell, et al.
Epilepsy & Behavior : E&B
|
August 8, 2020
Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework
Anne T Berg, Deborah Gaebler-Spira, Greta Wilkening, et al.
Neurology. Clinical Practice
|
October 23, 2024
Assessing Communication Impairments in a Rare Neurodevelopmental Disorder: The <i>SCN2A</i> Clinical Trials Readiness Study
Anne T Berg, Amanda N Nili, Lindsey Evans, et al.
Brain : a Journal of Neurology
|
April 23, 2024
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
Anne T Berg, Christopher H Thompson, Leah Schust Myers, et al.
Page
of 1