检索结果 - A Pou-Serradell
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1
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 由 Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz, Jochen Hecht, Florian Barvencik, Thorsten Schinke, Sebastian Gießelmann, Frank Timo Beil, A Pou-Serradell, Juan J. Vílchez, Christian Beetz, Tine Deconinck, Vincent Timmerman, Christoph Kaether, Peter De Jonghe, Christian A. Hübner, Andreas Gal, Michael Amling, Stefan Mundlos, Jonathan Baets, Ingo Kurth
出版 2014Artigo -
2
Genetic spectrum of hereditary neuropathies with onset in the first year of life 由 Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe
出版 2011Artigo
相关主题
Biology
Gene
Genetics
Mutation
Age of onset
Audiology
Auditory neuropathy
Cell biology
Compound heterozygosity
Disease
Endoplasmic reticulum
Gene duplication
Genetic heterogeneity
Genetic testing
Hearing loss
Hyporeflexia
Hypotonia
Medicine
Missense mutation
Neuroscience
Pathology
Pediatrics
Phenotype
Sensory system
Surgery
Weakness