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Dorit Lev

Showing results (161-170 of 176) with videos related to

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Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Pageof 18

Showing results (161-170 of 176) with videos related to

Sort By:
Pageof 18
Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Pageof 18