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Neurology. Genetics

Showing results (191-200 of 1,011) with videos related to

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Neurology. Genetics|December 20, 2024
Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of <i>SCN4A</i> and <i>CLCN1</i> Variants: A Case ReportMadina Tugizova, Marta Margeta, Megan Richie, et al.
Neurology. Genetics|February 6, 2025
UK Biobank-A Unique Resource for Discovery and Translation Research on Genetics and Neurologic DiseaseHannah Taylor, Melissa Lewins, M George B Foody, et al.
Neurology. Genetics|February 21, 2025
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer DiseaseAlesha Heath, M Windy McNerney, Jerome Yesavage
Neurology. Genetics|February 25, 2025
Redefining the Pathogenic CAG Repeat Units Threshold in <i>CACNA1A</i> for Spinocerebellar Ataxia Type 6Yuya Hatano, Tomohiko Ishihara, Sachiko Hirokawa, et al.
Neurology. Genetics|January 15, 2025
Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the ClinicianGiulia Stefania Porcari, John Warren Collyer, Laura Ann Adang, et al.
Neurology. Genetics|January 14, 2025
Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to EnzymesAjay R Tupil, Warwick Rivlin, Pamela A Mccombe, et al.
Neurology. Genetics|January 14, 2025
Erratum: Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
Neurology. Genetics|January 14, 2025
Global Perspectives on Returning Genetic Research Results in Parkinson DiseaseAi Huey Tan, Paula Saffie-Awad, Artur F Schumacher Schuh, et al.
Neurology. Genetics|February 28, 2025
High Prevalence of the Intronic GAA-<i>FGF14</i> Repeat Expansion in Dutch Patients With Late-Onset AtaxiaAna Ignjatijevic, Femke Boorsma, Elles Wierenga, et al.
Neurology. Genetics|September 9, 2024
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic VariantsLina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, et al.
Pageof 102

Showing results (191-200 of 1,011) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|December 20, 2024
Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of <i>SCN4A</i> and <i>CLCN1</i> Variants: A Case ReportMadina Tugizova, Marta Margeta, Megan Richie, et al.
Neurology. Genetics|February 6, 2025
UK Biobank-A Unique Resource for Discovery and Translation Research on Genetics and Neurologic DiseaseHannah Taylor, Melissa Lewins, M George B Foody, et al.
Neurology. Genetics|February 21, 2025
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer DiseaseAlesha Heath, M Windy McNerney, Jerome Yesavage
Neurology. Genetics|February 25, 2025
Redefining the Pathogenic CAG Repeat Units Threshold in <i>CACNA1A</i> for Spinocerebellar Ataxia Type 6Yuya Hatano, Tomohiko Ishihara, Sachiko Hirokawa, et al.
Neurology. Genetics|January 15, 2025
Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the ClinicianGiulia Stefania Porcari, John Warren Collyer, Laura Ann Adang, et al.
Neurology. Genetics|January 14, 2025
Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to EnzymesAjay R Tupil, Warwick Rivlin, Pamela A Mccombe, et al.
Neurology. Genetics|January 14, 2025
Erratum: Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
Neurology. Genetics|January 14, 2025
Global Perspectives on Returning Genetic Research Results in Parkinson DiseaseAi Huey Tan, Paula Saffie-Awad, Artur F Schumacher Schuh, et al.
Neurology. Genetics|February 28, 2025
High Prevalence of the Intronic GAA-<i>FGF14</i> Repeat Expansion in Dutch Patients With Late-Onset AtaxiaAna Ignjatijevic, Femke Boorsma, Elles Wierenga, et al.
Neurology. Genetics|September 9, 2024
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic VariantsLina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, et al.
Pageof 102