检索结果 - Elizabeth Stevens
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies 由 Sebahattin Çirak, A. Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Elizabeth Stevens, Silvia Torelli, Lina Brodd, Alisa Kamynina, Petr Vondráček, Helen Roper, Cheryl Longman, Rudolf Korinthenberg, Gianni Marrosu, Peter Nürnberg, Daniel E. Michele, Vincent Plagnol, Matt Hurles, Steven A. Moore, Caroline A. Sewry, Kevin P. Campbell, Thomas Voït, Francesco Muntoni
出版 2013Artigo -
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan 由 Elizabeth Stevens, Keren Carss, Sebahattin Çirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Göknur Haliloğlu, Dıclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew E. Hurles, Kevin P. Campbell, M. Chiara Manzini, Derek L. Stemple, Yung‐Yao Lin, Francesco Muntoni
出版 2013Artigo -
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan 由 Keren Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Çirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A. Moore, Sonia Messina, Enrico Bertini, Carsten G. Bönnemann, José E. Abdenur, Carla Grosmann, Akanchha Kesari, Jaya Punetha, Rosaline C. M. Quinlivan, Leigh B. Waddell, Helen Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline A. Sewry, Daniel G. MacArthur, Kathryn N. North, Eric P. Hoffman, Derek L. Stemple, Matthew E. Hurles, Hans van Bokhoven, Kevin P. Campbell, Dirk Lefeber, Yung‐Yao Lin, Francesco Muntoni
出版 2013Artigo
相关主题
Biology
Gene
Genetics
Internal medicine
Medicine
Mutation
Biochemistry
Compound heterozygosity
Congenital muscular dystrophy
Dystroglycan
Endocrinology
Extracellular matrix
Laminin
Limb-girdle muscular dystrophy
Muscular dystrophy
Phenotype
Anatomy
Antigen
Antigen processing
Bioorthogonal chemistry
Biophysics
Blood pressure
Cardiology
Cell biology
Chemistry
Click chemistry
Combinatorial chemistry
Diabetes mellitus
Diastole
Dystrophin