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Neurology. Genetics

Showing results (801-810 of 842) with videos related to

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Neurology. Genetics|January 26, 2026
Erratum: Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy CarriersAlejandra P Vigliano, Leonela Luce, José Manuel Pastor Rueda, et al.
Neurology. Genetics|November 24, 2025
Search for Additional Pathogenic Variants to Explain Variation in <i>PMP22</i>-Related NeuropathiesBarbara W van Paassen, Camiel Verhamme, Fred van Ruissen, et al.
Neurology. Genetics|December 23, 2024
Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or DuplicationsAkinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, et al.
Neurology. Genetics|December 25, 2024
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of LiteratureNikhil B Ghayal, Shanu F Roemer, Philip W Tipton, et al.
Neurology. Genetics|January 15, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome SequencingAnastasia Ambrose, Vanda McNiven, Diane Wilson, et al.
Neurology. Genetics|January 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder VariantKatrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
Neurology. Genetics|February 13, 2025
Women With Genetic EpilepsiesPaula T Marques, Nagham Kaka, Quratulain Zulfiqar Ali, et al.
Neurology. Genetics|February 6, 2025
A 3'UTR Insertion Is a Candidate Causal Variant at the <i>TMEM106B</i> Locus Associated With Increased Risk for FTLD-TDPAugustine Chemparathy, Yann Le Guen, Yi Zeng, et al.
Neurology. Genetics|December 5, 2024
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period ParalysisSonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neurology. Genetics|December 7, 2023
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar AtaxiaFatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, et al.
Pageof 85

Showing results (801-810 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|January 26, 2026
Erratum: Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy CarriersAlejandra P Vigliano, Leonela Luce, José Manuel Pastor Rueda, et al.
Neurology. Genetics|November 24, 2025
Search for Additional Pathogenic Variants to Explain Variation in <i>PMP22</i>-Related NeuropathiesBarbara W van Paassen, Camiel Verhamme, Fred van Ruissen, et al.
Neurology. Genetics|December 23, 2024
Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or DuplicationsAkinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, et al.
Neurology. Genetics|December 25, 2024
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of LiteratureNikhil B Ghayal, Shanu F Roemer, Philip W Tipton, et al.
Neurology. Genetics|January 15, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome SequencingAnastasia Ambrose, Vanda McNiven, Diane Wilson, et al.
Neurology. Genetics|January 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder VariantKatrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
Neurology. Genetics|February 13, 2025
Women With Genetic EpilepsiesPaula T Marques, Nagham Kaka, Quratulain Zulfiqar Ali, et al.
Neurology. Genetics|February 6, 2025
A 3'UTR Insertion Is a Candidate Causal Variant at the <i>TMEM106B</i> Locus Associated With Increased Risk for FTLD-TDPAugustine Chemparathy, Yann Le Guen, Yi Zeng, et al.
Neurology. Genetics|December 5, 2024
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period ParalysisSonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neurology. Genetics|December 7, 2023
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar AtaxiaFatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, et al.
Pageof 85