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Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
The Lancet. Oncology|August 8, 2020
Hereditary diffuse gastric cancer: updated clinical practice guidelinesVanessa R Blair, Maybelle McLeod, Fátima Carneiro, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
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