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Amira Masri

Showing results (31-40 of 49) with videos related to

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Neuropediatrics|July 8, 2026
Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource CountryAmal Abu Libdeh, Lara Alsubehat, Nada Tabbalat, et al.
American Journal of Human Genetics|December 7, 2010
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signalingJing Tian, Ling Ling, Mohammad Shboul, et al.
Stem Cell Research|April 25, 2022
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 geneNidaa A Ababneh, Raghda Barham, Ban Al-Kurdi, et al.
Scientific Reports|May 31, 2022
Facemask wearing does not impact neuro-electrical brain activityAhmad Tamimi, Said Dahbour, Assma Al-Btush, et al.
Neurology|October 1, 2013
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansL Benjamin Hills, Amira Masri, Kotaro Konno, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Neuropediatrics|July 8, 2026
Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource CountryAmal Abu Libdeh, Lara Alsubehat, Nada Tabbalat, et al.
American Journal of Human Genetics|December 7, 2010
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signalingJing Tian, Ling Ling, Mohammad Shboul, et al.
Stem Cell Research|April 25, 2022
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 geneNidaa A Ababneh, Raghda Barham, Ban Al-Kurdi, et al.
Scientific Reports|May 31, 2022
Facemask wearing does not impact neuro-electrical brain activityAhmad Tamimi, Said Dahbour, Assma Al-Btush, et al.
Neurology|October 1, 2013
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansL Benjamin Hills, Amira Masri, Kotaro Konno, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Human Molecular Genetics|November 28, 2012
GLRB is the third major gene of effect in hyperekplexiaSeo-Kyung Chung, Anna Bode, Thomas D Cushion, et al.
Pageof 5