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Neurology. Genetics

Showing results (181-190 of 1,011) with videos related to

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Neurology. Genetics|October 27, 2025
Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko InitiativeAlexandra Chapleau, Adam Le, Justin Simo, et al.
Neurology. Genetics|October 30, 2025
Novel <i>GNB4</i> Gene Variant and the Spectrum of <i>GNB4</i> Variants in Patients With Charcot-Marie-Tooth DiseaseDace Pretkalnina, Marija Jurcenko, Marija Rozevska, et al.
Neurology. Genetics|October 6, 2025
Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy CarriersAlejandra P Vigliano, Leonela Luce, José Manuel Pastor Rueda, et al.
Neurology. Genetics|June 18, 2020
Intronic pentanucleotide expansion in the replication factor 1 gene (<i>RFC1</i>) is a major cause of adult-onset ataxiaSylvia M Boesch, Martha A Nance
Neurology. Genetics|September 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i>-Related Autosomal Dominant LeukodystrophyRadhika Dhamija, W Oliver Tobin, Pietro Cortelli, et al.
Neurology. Genetics|May 21, 2021
Migrating Focal Seizures and Myoclonic Status in <i>ARV1-</i>Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Neurology. Genetics|July 21, 2025
Refining the Phenotypic and Genotypic Spectrum of <i>WDR73</i>-Related Galloway-Mowat Syndrome: A Case Series and Systematic ReviewYao-Lun Yang, Hsiu-Fen Lee, Ching-Shiang Chi, et al.
Neurology. Genetics|July 4, 2025
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis ComplexJimmy Li, Zaki El Haffaf, Jean-Baptiste Lattouf, et al.
Neurology. Genetics|July 24, 2025
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition: Beyond <i>APOE</i>Vijay K Ramanan, Michael G Heckman, Ekaterina I Hofrenning, et al.
Pageof 102

Showing results (181-190 of 1,011) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|October 27, 2025
Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko InitiativeAlexandra Chapleau, Adam Le, Justin Simo, et al.
Neurology. Genetics|October 30, 2025
Novel <i>GNB4</i> Gene Variant and the Spectrum of <i>GNB4</i> Variants in Patients With Charcot-Marie-Tooth DiseaseDace Pretkalnina, Marija Jurcenko, Marija Rozevska, et al.
Neurology. Genetics|October 6, 2025
Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy CarriersAlejandra P Vigliano, Leonela Luce, José Manuel Pastor Rueda, et al.
Neurology. Genetics|June 18, 2020
Intronic pentanucleotide expansion in the replication factor 1 gene (<i>RFC1</i>) is a major cause of adult-onset ataxiaSylvia M Boesch, Martha A Nance
Neurology. Genetics|September 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i>-Related Autosomal Dominant LeukodystrophyRadhika Dhamija, W Oliver Tobin, Pietro Cortelli, et al.
Neurology. Genetics|May 21, 2021
Migrating Focal Seizures and Myoclonic Status in <i>ARV1-</i>Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Neurology. Genetics|July 21, 2025
Refining the Phenotypic and Genotypic Spectrum of <i>WDR73</i>-Related Galloway-Mowat Syndrome: A Case Series and Systematic ReviewYao-Lun Yang, Hsiu-Fen Lee, Ching-Shiang Chi, et al.
Neurology. Genetics|July 4, 2025
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis ComplexJimmy Li, Zaki El Haffaf, Jean-Baptiste Lattouf, et al.
Neurology. Genetics|July 24, 2025
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition: Beyond <i>APOE</i>Vijay K Ramanan, Michael G Heckman, Ekaterina I Hofrenning, et al.
Pageof 102