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B Ben-Zeev

Showing results (31-40 of 37) with videos related to

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Molecular Genetics and Metabolism Reports|July 14, 2016
Creatine transporter deficiency: Novel mutations and functional studiesO Ardon, M Procter, R Mao, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 3, 2017
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavinG Heimer, E Eyal, X Zhu, et al.
Clinical Genetics|July 4, 2015
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosumG Heimer, D Marek-Yagel, E Eyal, et al.
American Journal of Human Genetics|March 20, 2001
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plusR H Wallace, I E Scheffer, S Barnett, et al.
Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 12, 2019
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite JewsM Weisz-Hubshman, H Meirson, R Michaelson-Cohen, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Molecular Genetics and Metabolism Reports|July 14, 2016
Creatine transporter deficiency: Novel mutations and functional studiesO Ardon, M Procter, R Mao, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 3, 2017
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavinG Heimer, E Eyal, X Zhu, et al.
Clinical Genetics|July 4, 2015
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosumG Heimer, D Marek-Yagel, E Eyal, et al.
American Journal of Human Genetics|March 20, 2001
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plusR H Wallace, I E Scheffer, S Barnett, et al.
Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 12, 2019
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite JewsM Weisz-Hubshman, H Meirson, R Michaelson-Cohen, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
Pageof 4