Kết quả tìm kiếm - Hanns Lochmüller
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Therapeutic Strategies in Congenital Myasthenic Syndromes Bằng Ulrike Schara, Hanns Lochmüller
Được phát hành 2008Revisão -
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Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness Bằng Teresinha Evangelista, Michael G. Hanna, Hanns Lochmüller
Được phát hành 2015Artigo -
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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies Bằng F. Norwood, Marjolein Visser, B. Eymard, Hanns Lochmüller, Kate Bushby
Được phát hành 2007Revisão -
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Duchenne muscular dystrophy and caregiver burden: a systematic review Bằng Erik Landfeldt, Josefin Edström, Filippo Buccella, Janbernd Kirschner, Hanns Lochmüller
Được phát hành 2018Revisão -
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Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene Bằng K. Greer, Hanns Lochmüller, Kevin M. Flanigan, Sue Fletcher, Steve D. Wilton
Được phát hành 2014Artigo -
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Economic Costs of Myasthenia Gravis: A Systematic Review Bằng Erik Landfeldt, Oksana Pogoryelova, Thomas Sejersen, Niklas Zethraeus, Ari Breiner, Hanns Lochmüller
Được phát hành 2020Revisão -
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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients Bằng Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
Được phát hành 2017Artigo -
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‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research Bằng Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller, Simon Woods
Được phát hành 2016Artigo -
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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR Bằng Katarzyna Marta Zoltowska, Richard Webster, Sarah Finlayson, Susan Maxwell, Judith Cossins, Juliane Müller, Hanns Lochmüller, David Beeson
Được phát hành 2013Artigo -
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The burden of Duchenne muscular dystrophy Bằng Erik Landfeldt, Peter Lindgren, Christopher F. Bell, Claude Schmitt, Michela Guglieri, Volker Straub, Hanns Lochmüller, K. Bushby
Được phát hành 2014Artigo -
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Công cụ tìm kiếm:
Các môn học liên quan
Medicine
Biology
Genetics
Gene
Internal medicine
Pathology
Mutation
Disease
Muscular dystrophy
Phenotype
Duchenne muscular dystrophy
Bioinformatics
Neuroscience
Biochemistry
Computer science
Endocrinology
Cell biology
Congenital myasthenic syndrome
Myopathy
Pediatrics
Physical therapy
Population
Receptor
Environmental health
Neuromuscular transmission
Anatomy
Neuromuscular junction
Weakness
Missense mutation
Physical medicine and rehabilitation