תוצאות חיפוש - Veronika Karcagi

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  1. 1
    Xeroderma Pigmentosum Complementation Group C Cells Remove Pyrimidine Dimers Selectively from the Transcribed Strand of Active Genes

    Xeroderma Pigmentosum Complementation Group C Cells Remove Pyrimidine Dimers Selectively from the Transcribed Strand of Active Genes מאת Jaap Venema, Anneke van Hoffen, Veronika Karcagi, A.T. Natarajan, A.A. van Zeeland, Leon H.F. Mullenders

    יצא לאור 1991
    קבל טקסט מלא
    Artigo
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  2. 2
    Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

    Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder מאת Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip G. Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horváth, Veronika Karcagi, Liesbeth Spruijt, I.F.M. de Coo, Hubert J.M. Smeets, Patrick F. Chinnery

    יצא לאור 2005
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    Mutation History of the Roma/Gypsies

    Mutation History of the Roma/Gypsies מאת Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Ágnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, J. Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva

    יצא לאור 2004
    קבל טקסט מלא
    Artigo
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  4. 4
    European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

    European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences מאת Julia Vry, K. Gramsch, Sunil Rodger, Rachel Thompson, Birgit F. Steffensen, Jes Rahbek, Sam Doerken, Adrian Tassoni, M. Beytia, Velina Guergueltcheva, Teodora Chamova, Ivailo Tournev, Anna Kostera‐Pruszczyk, Anna Kamińska, Anna Łusakowska, Lenka Mrázová, Lenka Pavlovská, Jana Strenková, Petr Vondráček, Miklós Garami, Veronika Karcagi, Ágnes Herczegfalvi, K. Bushby, Hanns Lochmüller, Janbernd Kirschner

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

    EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia מאת Veronika Boczonadi, Juliane Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Pikó, Mojgan Reza, Laura V. Flórez, Mauro Santibanez‐Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J. Elliott, Patrick F. Chinnery, Simon Edvardson, Rita Horváth

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

    The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases מאת Marina Mora, C. Angelini, Fabrizia Bignami, Anne-Mary Bodin, Marco Crimi, Jeanne Hélène di Donato, Alex E. Felice, Cécile Jaeger, Veronika Karcagi, Yann LeCam, Stephen Lynn, Marija Meznarič, Maurizio Moggio, Lucía Monaco, Luisa Politano, Manuel Posada de la Paz, Safaa Saker, Peter Schneiderat, Monica Ensini, Barbara Garavaglia, David Gurwitz, Diana Johnson, Francesco Muntoni, Jack Puymirat, Mojgan Reza, Thomas Voit, Chiara Baldo, F. Dagna Bricarelli, Stefano Goldwurm, Giuseppe Merla, Elena Pegoraro, Alessandra Renieri, Kurt Zatloukal, Mirella Filocamo, Hanns Lochmüller

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

    The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations מאת Catherine L. Bladen, David Salgado, Soledad Monges, María Eugenia Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, H.S. Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C. Walter, Olivia Schreiber‐Katz, Veronika Karcagi, Miklós Garami, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, En Kimura, Zaïda Koeks, J.C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Łusakowska, Anna Kostera‐Pruszczyk, Janusz Zimowski, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milić Rašić, Dina Vojinović, Manuel Posada de la Paz, Clemens Bloetzer, P.Y. Jeannet, Franziska Joncourt, Jordi Díaz‐Manera, Eduard Gallardo, Ayşen Karaduman, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy Shatillo, Ann Martin, Holly L. Peay, M. Bellgard, Janbernd Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Jan J.G.M. Verschuuren, Annemieke Aartsma‐Rus, Christophe Béroud, Hanns Lochmüller

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

    The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia מאת Catherine L. Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, Hugh Dawkins, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, Lawrence Korngut, Craig Campbell, Yi Dai, Nina Barišić, Tea Kos, Petr Brabec, Jes Rahbek, Jaana Lähdetie, Sylvie Tuffery‐Giraud, Mireille Claustres, France Leturcq, Rabah Ben Yaou, Maggie C. Walter, Olivia Schreiber, Veronika Karcagi, Ágnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Isis de la caridad Guerrero Sarmiento, Anna Ambrosini, Francesca Ceradini, En Kimura, J.C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Łusakowska, Jorge Oliveira, Rosário Santos, Elena Neagu, Niculina Butoianu, Svetlana Artemieva, Vedrana Milić Rašić, Manuel Posada de la Paz, Francesc Palau, Björn Lindvall, Clemens Bloetzer, Aynur Ayşe Karaduman, Haluk Topaloğlu, Serap Inal, Piraye Oflazer, Angela Stringer, Andriy Shatillo, Ann Martin, Holly L. Peay, Kevin M. Flanigan, David Salgado, B. von Rekowski, Stephen Lynn, Emma Heslop, Sabina Gainotti, Domenica Taruscio, Janbernd Kirschner, Jan J.G.M. Verschuuren, Kate Bushby, Christophe Béroud, Hanns Lochmüller

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
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  9. 9
    Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

    Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database מאת Zaïda Koeks, Catherine L. Bladen, David Salgado, Erik W. van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, María Eugenia Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, M. Bellgard, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, H.S. Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C. Walter, Olivia Schreiber‐Katz, Veronika Karcagi, Miklós Garami, Ágnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, J.C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Łusakowska, Anna Kostera‐Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milić Rašić, Dina Vojinović, Manuel Posada de la Paz, Clemens Bloetzer, Andrea Klein, Jordi Díaz‐Manera, Eduard Gallardo, Aynur Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy Shatillo, Ann Martin, Holly L. Peay, Janbernd Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J.G.M. Verschuuren, Hanns Lochmüller

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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