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Avi Fellner

Showing results (11-20 of 28) with videos related to

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Movement Disorders Clinical Practice|February 11, 2022
Possible <i>EIF2AK2</i>-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal LesionsSophie E Waller, Hugo Morales-Briceño, Laura Williams, et al.
American Journal of Medical Genetics. Part A|January 4, 2021
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literatureTomer Stern, Naama Orenstein, Avi Fellner, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disordersAvi Fellner, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Cerebellum (London, England)|January 25, 2023
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, et al.
Journal of Neuro-Oncology|January 15, 2018
Neurologic complications of immune checkpoint inhibitorsAvi Fellner, Chen Makranz, Michal Lotem, et al.
Movement Disorders Clinical Practice|April 18, 2023
<i>NOTCH2NLC</i> GGC Repeat Expansion Presenting as Adult-Onset Cervical DystoniaLaura J Williams, Jessica Qiu, Tien Lee Ong, et al.
Genetics in Medicine Open|December 13, 2024
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmasLina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Neurology. Genetics|March 25, 2021
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Movement Disorders Clinical Practice|February 11, 2022
Possible <i>EIF2AK2</i>-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal LesionsSophie E Waller, Hugo Morales-Briceño, Laura Williams, et al.
American Journal of Medical Genetics. Part A|January 4, 2021
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literatureTomer Stern, Naama Orenstein, Avi Fellner, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disordersAvi Fellner, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Cerebellum (London, England)|January 25, 2023
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, et al.
Journal of Neuro-Oncology|January 15, 2018
Neurologic complications of immune checkpoint inhibitorsAvi Fellner, Chen Makranz, Michal Lotem, et al.
Movement Disorders Clinical Practice|April 18, 2023
<i>NOTCH2NLC</i> GGC Repeat Expansion Presenting as Adult-Onset Cervical DystoniaLaura J Williams, Jessica Qiu, Tien Lee Ong, et al.
Genetics in Medicine Open|December 13, 2024
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmasLina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Neurology. Genetics|March 25, 2021
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, et al.
Pageof 3