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Ingo Helbig

Showing results (121-130 of 270) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disordersKatherine Crawford, Julie Xian, Katherine L Helbig, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Epilepsia|July 27, 2023
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsySara E Molisani, Darshana Parikh, Marissa DiGiovine, et al.
Epilepsia Open|January 10, 2023
A disease concept model for STXBP1-related disordersKatie R Sullivan, Sarah M Ruggiero, Julie Xian, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Annals of Clinical and Translational Neurology|July 16, 2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndromeIngo Helbig, Giulia Barcia, Manuela Pendziwiat, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.
Pageof 27

Showing results (121-130 of 270) with videos related to

Sort By:
Pageof 27
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disordersKatherine Crawford, Julie Xian, Katherine L Helbig, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Epilepsia|July 27, 2023
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsySara E Molisani, Darshana Parikh, Marissa DiGiovine, et al.
Epilepsia Open|January 10, 2023
A disease concept model for STXBP1-related disordersKatie R Sullivan, Sarah M Ruggiero, Julie Xian, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Annals of Clinical and Translational Neurology|July 16, 2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndromeIngo Helbig, Giulia Barcia, Manuela Pendziwiat, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.
Pageof 27