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Neurology. Genetics

Showing results (781-790 of 842) with videos related to

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Neurology. Genetics|November 26, 2024
Novel Biallelic Synonymous Exonic Variant in <i>VPS13A</i> Affecting mRNA Splicing: Case ReportRebecca Hui Min Hoe, Yi Zhao, Helen Lisa Ong, et al.
Neurology. Genetics|November 27, 2024
Adult Phenotype of <i>CHD2</i>-Associated DisordersMarlene Rong, Quratulain Zulfiqar Ali, Angel Aledo-Serrano, et al.
Neurology. Genetics|March 19, 2025
Erratum: Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic ParalysisSonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neurology. Genetics|October 24, 2024
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic TestingMatthew A Shear, Monica Penon-Portmann, Joseph T Shieh, et al.
Neurology. Genetics|October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
Neurology. Genetics|September 9, 2024
A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and HypotoniaFabian Dannenberg, Arpad Von Moers, Petra Bittigau, et al.
Neurology. Genetics|July 22, 2024
Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular AtrophyMar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, et al.
Neurology. Genetics|August 26, 2024
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical UtilityKaramala Yalapalli Manisha, Alfiya Fasaludeen, Prashanth Poulose, et al.
Neurology. Genetics|August 23, 2024
Erratum: CGG/CCG Repeat Expansions in <i>LOC642361/NUTM2B-AS1</i> in Thai Patients With Oculopharyngodistal Myopathy
Neurology. Genetics|August 23, 2024
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two CasesEdouard Berling, Philippe Latour, Klervie Loiselet, et al.
Pageof 85

Showing results (781-790 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|November 26, 2024
Novel Biallelic Synonymous Exonic Variant in <i>VPS13A</i> Affecting mRNA Splicing: Case ReportRebecca Hui Min Hoe, Yi Zhao, Helen Lisa Ong, et al.
Neurology. Genetics|November 27, 2024
Adult Phenotype of <i>CHD2</i>-Associated DisordersMarlene Rong, Quratulain Zulfiqar Ali, Angel Aledo-Serrano, et al.
Neurology. Genetics|March 19, 2025
Erratum: Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic ParalysisSonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neurology. Genetics|October 24, 2024
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic TestingMatthew A Shear, Monica Penon-Portmann, Joseph T Shieh, et al.
Neurology. Genetics|October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
Neurology. Genetics|September 9, 2024
A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and HypotoniaFabian Dannenberg, Arpad Von Moers, Petra Bittigau, et al.
Neurology. Genetics|July 22, 2024
Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular AtrophyMar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, et al.
Neurology. Genetics|August 26, 2024
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical UtilityKaramala Yalapalli Manisha, Alfiya Fasaludeen, Prashanth Poulose, et al.
Neurology. Genetics|August 23, 2024
Erratum: CGG/CCG Repeat Expansions in <i>LOC642361/NUTM2B-AS1</i> in Thai Patients With Oculopharyngodistal Myopathy
Neurology. Genetics|August 23, 2024
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two CasesEdouard Berling, Philippe Latour, Klervie Loiselet, et al.
Pageof 85