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Guy Helman

Showing results (41-50 of 61) with videos related to

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Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
American Journal of Human Genetics|October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during InfancyHuifang Yan, Guy Helman, Swetha E Murthy, et al.
The New England Journal of Medicine|September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières SyndromeAdeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Annals of Neurology|August 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and MicroangiopathyGuy Helman, Parand Zarekiani, Samantha A M Tromp, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
American Journal of Human Genetics|October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during InfancyHuifang Yan, Guy Helman, Swetha E Murthy, et al.
The New England Journal of Medicine|September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières SyndromeAdeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
Annals of Neurology|August 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and MicroangiopathyGuy Helman, Parand Zarekiani, Samantha A M Tromp, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Pageof 7