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Neurology. Genetics

Showing results (201-210 of 1,011) with videos related to

Pageof 102
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Neurology. Genetics|August 23, 2024
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic StrokeEliot N Haddad, Pranav Kumar, Galen Shearn-Nance, et al.
Neurology. Genetics|November 27, 2024
Novel <i>AIFM1</i> Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar AtaxiaAlejandra Vasquez, Lisa A Schimmenti, Nadir Demirel, et al.
Neurology. Genetics|November 8, 2024
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-<i>FGF14</i>-Related AtaxiaPierfrancesco Mitrotti, Elisa Vegezzi, Roberta Zangaglia, et al.
Neurology. Genetics|July 23, 2024
Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for LissencephalyRawan Alsafh, Amal Alhashem, Aly Elsyed, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
Neurology. Genetics|June 10, 2024
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant PhaseBora Jin, Jihoon G Yoon, Aryun Kim, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|January 18, 2024
Agenesis of Pectoralis Major Muscle in Late-Onset <i>GFPT1</i>-Related Congenital Myasthenic Syndrome: A Case ReportErika K Williams, Cristina Shea, Paloma Gonzalez-Perez
Neurology. Genetics|January 5, 2024
Novel In-Frame Deletion <i>CNOT3</i> Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic FaciesCha Gon Lee, Hyun Jung Kim, Chang Ahn Seol, et al.
Neurology. Genetics|November 29, 2023
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome MappingNaga M Guruju, Vanessa Jump, Richard Lemmers, et al.
Pageof 102

Showing results (201-210 of 1,011) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|August 23, 2024
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic StrokeEliot N Haddad, Pranav Kumar, Galen Shearn-Nance, et al.
Neurology. Genetics|November 27, 2024
Novel <i>AIFM1</i> Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar AtaxiaAlejandra Vasquez, Lisa A Schimmenti, Nadir Demirel, et al.
Neurology. Genetics|November 8, 2024
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-<i>FGF14</i>-Related AtaxiaPierfrancesco Mitrotti, Elisa Vegezzi, Roberta Zangaglia, et al.
Neurology. Genetics|July 23, 2024
Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for LissencephalyRawan Alsafh, Amal Alhashem, Aly Elsyed, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
Neurology. Genetics|June 10, 2024
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant PhaseBora Jin, Jihoon G Yoon, Aryun Kim, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|January 18, 2024
Agenesis of Pectoralis Major Muscle in Late-Onset <i>GFPT1</i>-Related Congenital Myasthenic Syndrome: A Case ReportErika K Williams, Cristina Shea, Paloma Gonzalez-Perez
Neurology. Genetics|January 5, 2024
Novel In-Frame Deletion <i>CNOT3</i> Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic FaciesCha Gon Lee, Hyun Jung Kim, Chang Ahn Seol, et al.
Neurology. Genetics|November 29, 2023
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome MappingNaga M Guruju, Vanessa Jump, Richard Lemmers, et al.
Pageof 102