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Neurology. Genetics

Showing results (361-370 of 1,012) with videos related to

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Neurology. Genetics|January 3, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar SubtypeAdrienne Elbert, Katherine Dixon, Yaoqing Shen, et al.
Neurology. Genetics|March 18, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathiesMatthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, et al.
Neurology. Genetics|July 23, 2024
A Novel Pattern of Dystonia in DYT-<i>VPS16</i>: "Speaking in Tongues"Clément Desjardins, Cécile Delorme, Aurélie Méneret, et al.
Neurology. Genetics|July 23, 2024
<i>CSF1R</i>-Related Disorder: Prevalence of <i>CSF1R</i> Variants and Their Clinical Significance in the UK PopulationCharles Wade, Kyle Runeckles, Jeremy Chataway, et al.
Neurology. Genetics|May 28, 2024
Correction to Preprint Server Information
Neurology. Genetics|July 21, 2023
<i>CWH43</i> Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure HydrocephalusPhilip W Tipton, Merve Atik, Alexandra I Soto-Beasley, et al.
Neurology. Genetics|July 12, 2023
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic CancersAlice F Bewley, Titilope M Akinwe, Tychele N Turner, et al.
Neurology. Genetics|June 19, 2023
Systemic Capillary Leak Syndrome With Cerebral Involvement in a <i>C9orf72</i> Expansion Carrier: Case Report and Review of the LiteratureStefan Sennfält, Oskar Aspegren, Martin Engvall, et al.
Neurology. Genetics|June 22, 2023
Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth DiseaseHsueh Wen Hsueh, Hsiao-Jung Kao, Chi-Chao Chao, et al.
Neurology. Genetics|January 31, 2019
Variable reporting of <i>C9orf72</i> and a high rate of uncertain results in ALS genetic testingHolly Klepek, Stephen A Goutman, Adam Quick, et al.
Pageof 102

Showing results (361-370 of 1,012) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|January 3, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar SubtypeAdrienne Elbert, Katherine Dixon, Yaoqing Shen, et al.
Neurology. Genetics|March 18, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathiesMatthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, et al.
Neurology. Genetics|July 23, 2024
A Novel Pattern of Dystonia in DYT-<i>VPS16</i>: "Speaking in Tongues"Clément Desjardins, Cécile Delorme, Aurélie Méneret, et al.
Neurology. Genetics|July 23, 2024
<i>CSF1R</i>-Related Disorder: Prevalence of <i>CSF1R</i> Variants and Their Clinical Significance in the UK PopulationCharles Wade, Kyle Runeckles, Jeremy Chataway, et al.
Neurology. Genetics|May 28, 2024
Correction to Preprint Server Information
Neurology. Genetics|July 21, 2023
<i>CWH43</i> Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure HydrocephalusPhilip W Tipton, Merve Atik, Alexandra I Soto-Beasley, et al.
Neurology. Genetics|July 12, 2023
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic CancersAlice F Bewley, Titilope M Akinwe, Tychele N Turner, et al.
Neurology. Genetics|June 19, 2023
Systemic Capillary Leak Syndrome With Cerebral Involvement in a <i>C9orf72</i> Expansion Carrier: Case Report and Review of the LiteratureStefan Sennfält, Oskar Aspegren, Martin Engvall, et al.
Neurology. Genetics|June 22, 2023
Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth DiseaseHsueh Wen Hsueh, Hsiao-Jung Kao, Chi-Chao Chao, et al.
Neurology. Genetics|January 31, 2019
Variable reporting of <i>C9orf72</i> and a high rate of uncertain results in ALS genetic testingHolly Klepek, Stephen A Goutman, Adam Quick, et al.
Pageof 102