Výsledky vyhledávání - Petra Zavadáková
- Zobrazuji výsledky 1 - 4 z 4
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1
The deep intronic c.903+469T>C mutation in the <i>MTRR</i> gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE typ... Autor Katerina Homolova, Petra Zavadáková, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Viktor Kožich, Brage Storstein Andresen
Vydáno 2010Artigo -
2
The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis Autor Terttu Suormala, Matthias R. Baumgartner, David Coelho, Petra Zavadáková, Viktor Kožich, Hans Georg Koch, Martin Berghaüser, J. E. Wraith, Alberto Burlina, A Sewell, Jürgen Herwig, Brian Fowler
Vydáno 2004Artigo -
3
Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies Autor Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin, A. Ferbert, Jana Haberlová, Radim Mazanec, Petra Laššuthová, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauß, Andreas Janecke, Petra Zavadáková, Roman Chrast, Carlo Rivolta, Stephan Züchner, Anthony Antonellis, Asim A. Beg, Peter De Jonghe, Jan Senderek, Pavel Seeman, Jonathan Baets
Vydáno 2015Artigo -
4
6th International Symposium on Molecular Allergology (ISMA) Autor Christiane Hilger, Kyra Swiontek, Jörg Fischer, François Hentges, Christiane Lehners, M. Morisset, Bernadette Eberlein, Tilo Biedermann, Markus Ollert, Sabrina Wildner, Teresa Stemeseder, Regina Freier, Peter Briza, Roland Lang, Eva Batanero, Mayte Villalba, Jonas Lidholm, Thomas Hawranek, Fátima Ferreira, Hans Brandstetter, Gabriele Gadermaier, Philippe Moingeon, Rachel Groeme, Julien Bouley, Véronique Bordas, Maxime Le Mignon, Lætitia Bussières, Aurélie Lautrette, Laurent Mascarell, Vincent Lombardi, Véronique Baron‐Bodo, Henri Chabre, Thierry Batard, Emmanuel Nony, Karine De Amicis Lima, Alexandra Sayuri Watanabe, Daniele Danella Figo, José Roberto Aparecido dos Santos‐Pinto, Mário Sérgio Palma, Fábio Fernandes Morato Castro, Jorge Kalil, Therese Wohlschlager, Fátima Ferreira, Keity Souza Santos, Margaretha A. Faber, Athina L. Van Gasse, Vito Sabato, Margo M. Hagendorens, Chris H. Bridts, Luc S. De Clerck, Araceli Díaz‐Perales, Didier G. Ebo, Petra Zavadáková, Aurélie Buchwalder, Fabien Rebeaud, Iwan Märki, Barbara Gepp, Nina Lengger, Christian Möbs, Wolfgang Pfützner, Christian Radauer, Barbara Bohle, Clóvis Eduardo Santos Galvão, José Roberto Aparecido dos Santos‐Pinto, Christian Schwager, Skadi Kull, Frauke Schocker, Jochen Behrends, Wolf‐Meinhard Becker, Uta Jappe, Carla Mastrorilli, Salvatore Tripodi, Carlo Caffarelli, Riccardo Asero, Arianna Dondi, Giampaolo Ricci, Carlotta Povesi Dascola, Elisabetta Calamelli, Andrea Di Rienzo Businco, Annamaria Bianchi, T. Frediani, Carmen Verga, Iride Dello Iacono, Diego Peroni, Giuseppe Pingitore, Roberto Bernardini, Paolo Maria Matricardi, Heidi Hofer, Claudia Asam, Michael Hauser, Martin Himly, Christof Ebner, P. Lemoine, K. Jain, Kathy Abiteboul, Monica Arvidsson, S. Rak, Inês Mota, Filipe Benito Garcia, Angéla Gáspár
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Mutation
Adenosylcobalamin
Allele
Allergen
Allergy
Art
Cobalamin
Complementation
Diabetes mellitus
Endocrinology
Enhancer
Exome
Exome sequencing
Exon
Exonic splicing enhancer
Gene expression
Humanities
Immunology
Internal medicine
Intron
MTRR
Methylcobalamin
Methylenetetrahydrofolate reductase
Missense mutation
Mutant
Peripheral neuropathy