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Dorit Lev

Showing results (151-160 of 176) with videos related to

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Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Additional EFNB1 mutations in craniofrontonasal syndromeDeeann Wallis, Felicitas Lacbawan, Mahim Jain, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
Human Mutation|October 1, 2003
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionNaohiro Kurotaki, Naoki Harada, Osamu Shimokawa, et al.
Pageof 18

Showing results (151-160 of 176) with videos related to

Sort By:
Pageof 18
Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Additional EFNB1 mutations in craniofrontonasal syndromeDeeann Wallis, Felicitas Lacbawan, Mahim Jain, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
Human Mutation|October 1, 2003
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionNaohiro Kurotaki, Naoki Harada, Osamu Shimokawa, et al.
Pageof 18