Výsledky vyhledávání - A Pou-Serradell
- Zobrazuji výsledky 1 - 2 z 2
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1
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 Autor 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
Vydáno 2014Artigo -
2
Genetic spectrum of hereditary neuropathies with onset in the first year of life Autor 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
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
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