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Katherine L Helbig

Showing results (1-10 of 78) with videos related to

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Expert Review of Molecular Diagnostics|May 27, 2017
The role of genetic testing in epilepsy diagnosis and managementYvonne G Weber, Saskia Biskup, Katherine L Helbig, et al.
American Journal of Medical Genetics. Part A|April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descentShauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
Developmental Medicine and Child Neurology|March 1, 2022
Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathiesStacey R Cohen, Ingo Helbig, Michael C Kaufman, et al.
Clinical Case Reports|July 11, 2018
Diagnostic exome sequencing identifies <i>GLI2</i> haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomaliesSamin A Sajan, Zöe Powis, Katherine L Helbig, et al.
Journal of Neurodevelopmental Disorders|June 27, 2022
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based PublicationsJennifer M Bain, LeeAnne Green Snyder, Katherine L Helbig, et al.
BMC Medical Genetics|March 16, 2012
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiologyKatherine L Helbig, Michael Nothnagel, Jochen Hampe, et al.
Epilepsia|February 19, 2010
Genetic risk perception and reproductive decision making among people with epilepsyKatherine L Helbig, Barbara A Bernhardt, Laura J Conway, et al.
Annals of Neurology|December 27, 2016
ReplyKatherine L Helbig, Ulrike B S Hedrich, Ingrid E Scheffer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsyKatherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, et al.
International Journal of Molecular Sciences|September 4, 2020
Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic EncephalopathyGéza Berecki, Katherine L Helbig, Tyson L Ware, et al.
Pageof 8

Showing results (1-10 of 78) with videos related to

Sort By:
Pageof 8
Expert Review of Molecular Diagnostics|May 27, 2017
The role of genetic testing in epilepsy diagnosis and managementYvonne G Weber, Saskia Biskup, Katherine L Helbig, et al.
American Journal of Medical Genetics. Part A|April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descentShauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
Developmental Medicine and Child Neurology|March 1, 2022
Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathiesStacey R Cohen, Ingo Helbig, Michael C Kaufman, et al.
Clinical Case Reports|July 11, 2018
Diagnostic exome sequencing identifies <i>GLI2</i> haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomaliesSamin A Sajan, Zöe Powis, Katherine L Helbig, et al.
Journal of Neurodevelopmental Disorders|June 27, 2022
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based PublicationsJennifer M Bain, LeeAnne Green Snyder, Katherine L Helbig, et al.
BMC Medical Genetics|March 16, 2012
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiologyKatherine L Helbig, Michael Nothnagel, Jochen Hampe, et al.
Epilepsia|February 19, 2010
Genetic risk perception and reproductive decision making among people with epilepsyKatherine L Helbig, Barbara A Bernhardt, Laura J Conway, et al.
Annals of Neurology|December 27, 2016
ReplyKatherine L Helbig, Ulrike B S Hedrich, Ingrid E Scheffer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsyKatherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, et al.
International Journal of Molecular Sciences|September 4, 2020
Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic EncephalopathyGéza Berecki, Katherine L Helbig, Tyson L Ware, et al.
Pageof 8