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Neurology. Genetics

Showing results (581-590 of 842) with videos related to

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Neurology. Genetics|July 26, 2024
Erratum: Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study
Neurology. Genetics|July 26, 2024
Clinicopathologic Characterization of 2 Individuals With <i>TBK1</i> Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case SeriesKimiko Domoto-Reilly, B Jane Distad, Danny E Miller, et al.
Neurology. Genetics|April 8, 2024
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic AstrocytopathyKun Leng, Cathryn R Cadwell, Walter P Devine, et al.
Neurology. Genetics|March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 DeficiencyFrancisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Neurology. Genetics|January 18, 2024
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach: Application to CADASILHenri Chhoa, Hugues Chabriat, Adelina Joanita Anato, et al.
Neurology. Genetics|January 17, 2024
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <i>ADSSL1</i> Missense VariantDipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.
Neurology. Genetics|September 9, 2024
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis CohortsSiting Li, Jiang Gui, Michael N Passarelli, et al.
Neurology. Genetics|September 23, 2024
CGG/CCG Repeat Expansions in <i>LOC642361/NUTM2B-AS1</i> in Thai Patients With Oculopharyngodistal MyopathySunsanee Pongpakdee, Metha Apiwattanakul, Thanes Termglinchan, et al.
Neurology. Genetics|August 14, 2024
Novel Genetic Variant in <i>HUWE1</i>: Prenatal and Postnatal Neuroimaging PhenotypeMario Tortora, Elisa Cattaneo, Luigina Spaccini, et al.
Neurology. Genetics|May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Pageof 85

Showing results (581-590 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|July 26, 2024
Erratum: Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study
Neurology. Genetics|July 26, 2024
Clinicopathologic Characterization of 2 Individuals With <i>TBK1</i> Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case SeriesKimiko Domoto-Reilly, B Jane Distad, Danny E Miller, et al.
Neurology. Genetics|April 8, 2024
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic AstrocytopathyKun Leng, Cathryn R Cadwell, Walter P Devine, et al.
Neurology. Genetics|March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 DeficiencyFrancisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Neurology. Genetics|January 18, 2024
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach: Application to CADASILHenri Chhoa, Hugues Chabriat, Adelina Joanita Anato, et al.
Neurology. Genetics|January 17, 2024
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <i>ADSSL1</i> Missense VariantDipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.
Neurology. Genetics|September 9, 2024
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis CohortsSiting Li, Jiang Gui, Michael N Passarelli, et al.
Neurology. Genetics|September 23, 2024
CGG/CCG Repeat Expansions in <i>LOC642361/NUTM2B-AS1</i> in Thai Patients With Oculopharyngodistal MyopathySunsanee Pongpakdee, Metha Apiwattanakul, Thanes Termglinchan, et al.
Neurology. Genetics|August 14, 2024
Novel Genetic Variant in <i>HUWE1</i>: Prenatal and Postnatal Neuroimaging PhenotypeMario Tortora, Elisa Cattaneo, Luigina Spaccini, et al.
Neurology. Genetics|May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Pageof 85