Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with coresNyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
Annals of the Rheumatic Diseases|September 1, 2017
Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the handWouter den Hollander, Cindy G Boer, Deborah J Hart, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
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.
Emerging Microbes & Infections|January 20, 2021
Saliva viral load better correlates with clinical and immunological profiles in children with coronavirus disease 2019Gilbert T Chua, Joshua S C Wong, Kelvin K W To, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Pageof 8