Search Results - J Zeman
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Genetic defects of cytochrome c oxidase assembly by Petr Pecina, H Houst'ková, J Zeman, J Houštěk
Published 2004Artigo -
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YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation by Lukáš Stibůrek, Jana Cesnekova, Olga Kostková, Daniela Fornůsková, Kamila Vinšová, László Wenchich, J Houštěk, J Zeman
Published 2012Artigo -
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Colors of entangled two-photon absorption by Oleg Varnavski, Sajal Kumar Giri, Tse-Min Chiang, Charles J. Zeman, George C. Schatz, Theodore Goodson
Published 2023Artigo -
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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy by J. E. Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meırleır, Nathalie Guffon, Allan M. Lund, Gunilla Malm, Ans T. van der Ploeg, J Zeman
Published 2007Revisão -
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Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency by Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska‐Abramczuk, Jolanta Sykut‐Cegielska, Hanna Mierzewska, Hana Hansı́ková, Kateřina Veselá, Markéta Tesařová, H Houst'ková, J Houštěk, J Zeman
Published 2005Artigo -
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Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation by Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, Hana Hansíková, Pavel Ješina, Olaf A. Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy Van Coster, Stanislav Kmoch, J Houštěk, Wolfgang Sperl, J Zeman
Published 2010Artigo -
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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation by Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Jana Sovová, Levente József, Nina Ondrušková, Hana Hansíková, Tomáš Honzík, J Zeman, Helena Hůlková, Rong Wen, Stanislav Kmoch, William C. Sessa
Published 2014Artigo -
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure by Minke H. de Ru, Q. Teunissen, Johanna H. van der Lee, Michael Beck, Olaf A. Bodamer, Lorne A. Clarke, Carla E. M. Hollak, Shuan-Pei Lin, M. Rojas, Gregory M. Pastores, Julian Raiman, Maurizio Scarpa, Eileen P. Treacy, Anna Tylki‐Szymańska, J. E. Wraith, J Zeman, Frits A. Wijburg
Published 2012Artigo -
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Mutations in ANTXR1 Cause GAPO Syndrome by Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch
Published 2013Artigo -
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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing by Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch
Published 2012Artigo -
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease by Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf A. Bodamer, Iain Bruce, Linda De Meırleır, Nathalie Guffon, Encarna Guillén‐Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine Lavery, Elisa Leão Teles, Bianca Link, Allan M. Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki‐Szymańska, Ans van der Ploeg, Robert Walker, J Zeman, J. E. Wraith
Published 2011Artigo -
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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) by Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, J Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, Takuya Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky
Published 2006Artigo
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