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Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|April 26, 2021
Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populationsAnetta Ptasinska, Celina Whalley, Andrew Bosworth, et al.
American Journal of Human Genetics|October 1, 1989
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletionM Koenig, A H Beggs, M Moyer, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Ebiomedicine|December 12, 2023
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trialMichael W Lawlor, Benedikt Schoser, Marta Margeta, et al.
European Radiology|November 13, 2019
Clinical indications for image guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)-part III, nerves of the upper limbLuca Maria Sconfienza, Miraude Adriaensen, Domenico Albano, et al.
European Radiology|September 19, 2019
Clinical indications for image-guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)-part I, shoulderLuca Maria Sconfienza, Miraude Adriaensen, Domenico Albano, et al.
The Journal of Clinical Investigation|November 1, 2019
KBTBD13 is an actin-binding protein that modulates muscle kineticsJosine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
European Radiology|December 18, 2019
Clinical indications for image-guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)-Part II, elbow and wristLuca Maria Sconfienza, Miraude Adriaensen, Domenico Albano, et al.
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