Showing results (101-110 of 110) with videos related to
Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 110 results.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 6, 2024
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practiceMaría Eugenia Amato, Alejandra Darling, Lucie Stovickova, et al.Plos One|February 6, 2016
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceAmanda Jefferson, Helen Leonard, Aris Siafarikas, et al.Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.Journal of Clinical Immunology|January 7, 2021
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I InterferonopathiesLorenzo Lodi, Isabelle Melki, Vincent Bondet, et al.Journal of Medical Genetics|October 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.Pageof 11