Showing results (781-790 of 831) with videos related to

Sort By:
Pageof 84
Neuromuscular Disorders : NMD|May 1, 2013
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysisN Dlamini, N C Voermans, S Lillis, et al.
Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 22, 2023
High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical FactorsIris A S Stroot, Jan Brouwer, Joost Bart, et al.
Annals of the Rheumatic Diseases|January 27, 2017
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositisJ B Lilleker, A Rietveld, S R Pye, et al.
BMC Neurology|August 13, 2021
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG studyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Journal of Medical Genetics|July 17, 2023
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromesRobyn Hebert, Noelle Cullinan, Linlea Armstrong, et al.
Human Mutation|November 6, 2022
KBTBD13 is a novel cardiomyopathy geneJosine M de Winter, Karlijn Bouman, Joshua Strom, et al.
American Journal of Human Genetics|May 7, 2016
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral DystrophyMarlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
MRI in sarcoglycanopathies: a large international cohort studyGiorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.
Orphanet Journal of Rare Diseases|September 7, 2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Pageof 84