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Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in STXBP1-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Neurology. Genetics|December 16, 2022
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental IsodisomyAvaneesh R Kunta, Jeremy Jueng, Catherine Jordan, et al.
Neurology. Genetics|December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS SyndromeKatherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.
Neurology. Genetics|December 7, 2022
Somatic Variants in SVIL in Cerebral AneurysmsPui Man Rosalind Lai, Jee-Yeon Ryu, Sang-Cheol Park, et al.
Neurology. Genetics|June 24, 2022
Genome Sequencing in the Parkinson Disease ClinicEmily J Hill, Laurie A Robak, Rami Al-Ouran, et al.
Neurology. Genetics|December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
Neurology. Genetics|July 8, 2021
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic DataRudolf Andre Kley, Yvonne Leber, Bertold Schrank, et al.
Neurology. Genetics|July 12, 2021
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder EffectJamie N Leckie, Matthew M Joel, Kristina Martens, et al.
Neurology. Genetics|July 12, 2021
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore SequencingCharles Jourdan Reyes, Björn-Hergen Laabs, Susen Schaake, et al.
Neurology. Genetics|October 16, 2020
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophyRodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido, et al.
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