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Therapeutic Advances in Rare Disease
|
June 20, 2024
STXBP1: fast-forward to a brighter future - a patient organization perspective
James R Goss, Benjamin Prosser, Ingo Helbig, et al.
Neuropediatrics
|
May 26, 2018
Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity
Niklas Holze, Andreas van Baalen, Ulrich Stephani, et al.
The Lancet. Neurology
|
February 16, 2008
Navigating the channels and beyond: unravelling the genetics of the epilepsies
Ingo Helbig, Ingrid E Scheffer, John C Mulley, et al.
Brain : a Journal of Neurology
|
March 24, 2020
Early-onset genetic epilepsies reaching adult clinics
David Lewis-Smith, Colin A Ellis, Ingo Helbig, et al.
Briefings in Bioinformatics
|
August 14, 2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis
Robert Wang, Ingo Helbig, Andrew C Edmondson, et al.
Current Problems in Pediatric and Adolescent Health Care
|
June 2, 2024
Advances in big data and omics: Paving the way for discovery in childhood epilepsies
Jan Magielski, Ian McSalley, Shridhar Parthasarathy, et al.
Expert Review of Neurotherapeutics
|
October 28, 2016
Precision medicine in genetic epilepsies: break of dawn?
Philipp Sebastian Reif, Meng-Han Tsai, Ingo Helbig, et al.
Frontiers in Neurology
|
June 26, 2023
<i>KCNC2</i> variants of uncertain significance are also associated to various forms of epilepsy
Simone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, et al.
Genes
|
August 27, 2021
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records
James Margolin Havrilla, Mengge Zhao, Cong Liu, et al.
Brain : a Journal of Neurology
|
October 27, 2025
USP25 in genetic generalized epilepsy: a gene under scrutiny
Maryam Erfanian Omidvar, Jill R Murrell, Anna J Prentice, et al.
Page
of 30
Search research articles
Search
Showing results (31-40 of 292) with videos related to
Sort By:
Page
of 30
Therapeutic Advances in Rare Disease
|
June 20, 2024
STXBP1: fast-forward to a brighter future - a patient organization perspective
James R Goss, Benjamin Prosser, Ingo Helbig, et al.
Neuropediatrics
|
May 26, 2018
Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity
Niklas Holze, Andreas van Baalen, Ulrich Stephani, et al.
The Lancet. Neurology
|
February 16, 2008
Navigating the channels and beyond: unravelling the genetics of the epilepsies
Ingo Helbig, Ingrid E Scheffer, John C Mulley, et al.
Brain : a Journal of Neurology
|
March 24, 2020
Early-onset genetic epilepsies reaching adult clinics
David Lewis-Smith, Colin A Ellis, Ingo Helbig, et al.
Briefings in Bioinformatics
|
August 14, 2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis
Robert Wang, Ingo Helbig, Andrew C Edmondson, et al.
Current Problems in Pediatric and Adolescent Health Care
|
June 2, 2024
Advances in big data and omics: Paving the way for discovery in childhood epilepsies
Jan Magielski, Ian McSalley, Shridhar Parthasarathy, et al.
Expert Review of Neurotherapeutics
|
October 28, 2016
Precision medicine in genetic epilepsies: break of dawn?
Philipp Sebastian Reif, Meng-Han Tsai, Ingo Helbig, et al.
Frontiers in Neurology
|
June 26, 2023
<i>KCNC2</i> variants of uncertain significance are also associated to various forms of epilepsy
Simone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, et al.
Genes
|
August 27, 2021
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records
James Margolin Havrilla, Mengge Zhao, Cong Liu, et al.
Brain : a Journal of Neurology
|
October 27, 2025
USP25 in genetic generalized epilepsy: a gene under scrutiny
Maryam Erfanian Omidvar, Jill R Murrell, Anna J Prentice, et al.
Page
of 30