Showing results (31-40 of 38) with videos related to
Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Journal of Medical Genetics|January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 familiesGeneviève Baujat, Céline Huber, Joyce El Hokayem, et al.Acta Neuropathologica Communications|April 15, 2014
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotypeEdoardo Malfatti, Vilma-Lotta Lehtokari, Johann Böhm, et al.Annals of Neurology|June 14, 2008
De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, et al.Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.Journal of Child Neurology|March 21, 2012
Consensus statement on standard of care for congenital myopathiesChing H Wang, James J Dowling, Kathryn North, et al.Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.Pageof 4