Torthaí cuardaigh - Jana Sovová

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  1. 1
    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency de réir Veronika Barešová, Václava Škopová, Jakub Sikora, David Patterson, Jana Sovová, Marie Zikánová, Stanislav Kmoch

    Foilsithe / Cruthaithe 2011
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  2. 2
    Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

    Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation de réir 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

    Foilsithe / Cruthaithe 2014
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  3. 3
    Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

    Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6 de réir Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová, Kendrah Kidd, Philip D. Acott, John F. S. Crocker, Youcef Oussedik, Marcel Mallet, Kateřina Hodaňová, Viktor Stránecký, Anna Přistoupilová, Veronika Barešová, Ivana Jedličková, Martina Živná, Jana Sovová, Helena Hůlková, Vicki Robins, Marek Vrbacký, Petr Pecina, Vilma Kaplanová, J Houštěk, Tomáš Mráček, Yves Thibeault, Anthony J. Bleyer, Stanislav Kmoch

    Foilsithe / Cruthaithe 2016
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  4. 4
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome de réir 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

    Foilsithe / Cruthaithe 2013
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  5. 5
    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure de réir Martina Živná, Helena Hůlková, Marie Matignon, Kateřina Hodaňová, Petr Vyleťal, Marie Hubálek Kalbáčová, Veronika Barešová, Jakub Sikora, Hana Blažková, J Živný, Robert Ivánek, Viktor Stránecký, Jana Sovová, Kathleen Claes, Evelyne Lerut, Jean‐Pierre Fryns, P. Suzanne Hart, Thomas C. Hart, Jeremy N. Adams, Audrey Pawtowski, Maud Clemessy, Jean-Marie Gasc, Marie‐Claire Gubler, Corinne Antignac, M. Elleder, Katja Kapp, Philippe Grimbert, Anthony J. Bleyer, Stanislav Kmoch

    Foilsithe / Cruthaithe 2009
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  6. 6
    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia de réir Nikhita Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R. Huyghe, Ann Raes, E Matthys, Emiel Sys, M Azou, Marie‐Claire Gubler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyleťal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Jana Sovová, Aleš Hnı́zda, Kendrah Kidd, Anthony J. Bleyer, Richard Spong, Johan Vande Walle, Geert Mortier, Han G. Brunner, Lut Van Laer, Stanislav Kmoch, Nicholas Katsanis, Bart Loeys

    Foilsithe / Cruthaithe 2016
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  7. 7
    Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

    Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing de réir Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James Robinson, Moran N. Cabili, Irit Gat‐Viks, Edward Kelliher, Riza M. Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vyleťal, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snævar Sigurðsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd J. Green, Elizabeth J. Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad‐Toh, Stacey B. Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly

    Foilsithe / Cruthaithe 2013
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