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Neurology. Genetics

Showing results (471-480 of 842) with videos related to

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Neurology. Genetics|August 29, 2022
Erratum: Expanding Clinical Spectrum of <i>C9ORF72</i>-Related Disorders and Promising Therapeutic Strategies: A Review
Neurology. Genetics|September 3, 2025
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant: Mild Clinical and MRI FindingsToshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Neurology. Genetics|June 5, 2020
Phenotypic variability in chorea-acanthocytosis associated with novel <i>VPS13A</i> mutationsValter Niemelä, Ammar Salih, Daniela Solea, et al.
Neurology. Genetics|August 13, 2021
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the ClinicJennifer Roggenbuck, Kelly A Rich, Leah Vicini, et al.
Neurology. Genetics|August 13, 2021
Pathogenic <i>DNM1</i> Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case ReportElaine Choi, Breanne Dale, Rajesh RamachandranNair, et al.
Neurology. Genetics|May 12, 2021
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neurology. Genetics|May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital MyopathyDaniel G Calame, Jawid Fatih, Isabella Herman, et al.
Neurology. Genetics|April 28, 2020
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disordersThomas L Winder, Christopher A Tan, Sarah Klemm, et al.
Neurology. Genetics|April 28, 2020
Neuraxial dysraphism in <i>EPAS1-</i>associated syndrome due to improper mesenchymal transitionJared S Rosenblum, Anthony J Cappadona, Davis P Argersinger, et al.
Pageof 85

Showing results (471-480 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|August 29, 2022
Erratum: Expanding Clinical Spectrum of <i>C9ORF72</i>-Related Disorders and Promising Therapeutic Strategies: A Review
Neurology. Genetics|September 3, 2025
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant: Mild Clinical and MRI FindingsToshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Neurology. Genetics|June 5, 2020
Phenotypic variability in chorea-acanthocytosis associated with novel <i>VPS13A</i> mutationsValter Niemelä, Ammar Salih, Daniela Solea, et al.
Neurology. Genetics|August 13, 2021
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the ClinicJennifer Roggenbuck, Kelly A Rich, Leah Vicini, et al.
Neurology. Genetics|August 13, 2021
Pathogenic <i>DNM1</i> Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case ReportElaine Choi, Breanne Dale, Rajesh RamachandranNair, et al.
Neurology. Genetics|May 12, 2021
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neurology. Genetics|May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital MyopathyDaniel G Calame, Jawid Fatih, Isabella Herman, et al.
Neurology. Genetics|April 28, 2020
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disordersThomas L Winder, Christopher A Tan, Sarah Klemm, et al.
Neurology. Genetics|April 28, 2020
Neuraxial dysraphism in <i>EPAS1-</i>associated syndrome due to improper mesenchymal transitionJared S Rosenblum, Anthony J Cappadona, Davis P Argersinger, et al.
Pageof 85