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Dorit Lev

Showing results (91-100 of 176) with videos related to

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Acta Neuropathologica|July 4, 2012
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutationJohann Böhm, Esther Leshinsky-Silver, Stéphane Vassilopoulos, et al.
Fetal Diagnosis and Therapy|October 7, 2016
Familial Brain Periventricular PseudocystsShiri Shinar, Gustavo Malinger, Zvi Leibovitz, et al.
Journal of Genetic Counseling|November 24, 2011
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli populationMiri Yanoov-Sharav, Esther Leshinsky-Silver, Sarit Cohen, et al.
American Journal of Medical Genetics. Part A|May 3, 2014
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndromeIdit Maya, Chana Vinkler, Osnat Konen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 31, 2015
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorderLubov Blumkin, Teisha Bradshaw, Marina Michelson, et al.
Journal of Child Neurology|September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutationRachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.
Journal of Child Neurology|August 31, 2016
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology PatientsMaya Kuperberg, Dorit Lev, Lubov Blumkin, et al.
Neurogenetics|February 1, 2012
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) Peter Bauer, Esther Leshinsky-Silver, Lubov Blumkin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 16, 2011
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutationLubov Blumkin, Arvid Suls, Tine Deconinck, et al.
Ultraschall in Der Medizin (Stuttgart, Germany : 1980)|July 5, 2018
Ultrasound Nomograms of the Fetal Optic Nerve Sheath DiameterKarina Krajden Haratz, Yaakov Melcer, Zvi Leibovitz, et al.
Pageof 18

Showing results (91-100 of 176) with videos related to

Sort By:
Pageof 18
Acta Neuropathologica|July 4, 2012
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutationJohann Böhm, Esther Leshinsky-Silver, Stéphane Vassilopoulos, et al.
Fetal Diagnosis and Therapy|October 7, 2016
Familial Brain Periventricular PseudocystsShiri Shinar, Gustavo Malinger, Zvi Leibovitz, et al.
Journal of Genetic Counseling|November 24, 2011
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli populationMiri Yanoov-Sharav, Esther Leshinsky-Silver, Sarit Cohen, et al.
American Journal of Medical Genetics. Part A|May 3, 2014
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndromeIdit Maya, Chana Vinkler, Osnat Konen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 31, 2015
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorderLubov Blumkin, Teisha Bradshaw, Marina Michelson, et al.
Journal of Child Neurology|September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutationRachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.
Journal of Child Neurology|August 31, 2016
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology PatientsMaya Kuperberg, Dorit Lev, Lubov Blumkin, et al.
Neurogenetics|February 1, 2012
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) Peter Bauer, Esther Leshinsky-Silver, Lubov Blumkin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 16, 2011
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutationLubov Blumkin, Arvid Suls, Tine Deconinck, et al.
Ultraschall in Der Medizin (Stuttgart, Germany : 1980)|July 5, 2018
Ultrasound Nomograms of the Fetal Optic Nerve Sheath DiameterKarina Krajden Haratz, Yaakov Melcer, Zvi Leibovitz, et al.
Pageof 18