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Showing results (1361-1370 of 1,396) with videos related to

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Neurology. Genetics|May 2, 2019
Clinical, genetic, and pathologic characterization of <i>FKRP</i> Mexican founder mutation c.1387A>GAngela J Lee, Karra A Jones, Russell J Butterfield, et al.
Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Nature Medicine|August 11, 2014
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceNicolas Wein, Adeline Vulin, Maria S Falzarano, et al.
Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
The Journal of Biological Chemistry|May 14, 2009
Differential enzymatic activity of common haplotypic versions of the human acidic Mammalian chitinase proteinMax A Seibold, Tiffany A Reese, Shweta Choudhry, et al.
The Lancet Regional Health. Europe|June 9, 2025
Intermuscular adipose tissue and lean muscle mass assessed with MRI in people with chronic back pain in Germany: a retrospective observational studySebastian Ziegelmayer, Hartmut Häntze, Christian Mertens, et al.
The Lancet. Rheumatology|May 9, 2026
Prevalence and determinants of sacroiliac joint bone marrow oedema in the general population in Germany: a population-based cross-sectional studyKeno Bressem, Murat Torgutalp, Torsten Diekhoff, et al.
Blood Cancer Discovery|March 11, 2025
Selective Enhancer Dependencies in MYC-Intact and MYC-Rearranged Germinal Center B-cell Diffuse Large B-cell LymphomaAshwin R Iyer, Aishwarya Gurumurthy, Shih-Chun A Chu, et al.
Developmental Cognitive Neuroscience|October 21, 2017
The conception of the ABCD study: From substance use to a broad NIH collaborationNora D Volkow, George F Koob, Robert T Croyle, et al.
Pageof 140

Showing results (1361-1370 of 1,396) with videos related to

Sort By:
Pageof 140
Neurology. Genetics|May 2, 2019
Clinical, genetic, and pathologic characterization of <i>FKRP</i> Mexican founder mutation c.1387A>GAngela J Lee, Karra A Jones, Russell J Butterfield, et al.
Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Nature Medicine|August 11, 2014
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceNicolas Wein, Adeline Vulin, Maria S Falzarano, et al.
Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
The Journal of Biological Chemistry|May 14, 2009
Differential enzymatic activity of common haplotypic versions of the human acidic Mammalian chitinase proteinMax A Seibold, Tiffany A Reese, Shweta Choudhry, et al.
The Lancet Regional Health. Europe|June 9, 2025
Intermuscular adipose tissue and lean muscle mass assessed with MRI in people with chronic back pain in Germany: a retrospective observational studySebastian Ziegelmayer, Hartmut Häntze, Christian Mertens, et al.
The Lancet. Rheumatology|May 9, 2026
Prevalence and determinants of sacroiliac joint bone marrow oedema in the general population in Germany: a population-based cross-sectional studyKeno Bressem, Murat Torgutalp, Torsten Diekhoff, et al.
Blood Cancer Discovery|March 11, 2025
Selective Enhancer Dependencies in MYC-Intact and MYC-Rearranged Germinal Center B-cell Diffuse Large B-cell LymphomaAshwin R Iyer, Aishwarya Gurumurthy, Shih-Chun A Chu, et al.
Developmental Cognitive Neuroscience|October 21, 2017
The conception of the ABCD study: From substance use to a broad NIH collaborationNora D Volkow, George F Koob, Robert T Croyle, et al.
Pageof 140