检索结果 - Lenka Nosková

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  1. 1
    Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

    Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis 由 Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana Tyynelä, Christine Van Broeckhoven, Peter C.G. Nijssen, Sara Mole, M. Elleder, Stanislav Kmoch

    出版 2011
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  2. 2
    Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

    Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver 由 Evita van de Steeg, Viktor Stránecký, Hana Hartmannová, Lenka Nosková, Martin Hřebı́ček, Els Wagenaar, Anita van Esch, Dirk R. de Waart, Ronald P.J. Oude Elferink, Kathryn E. Kenworthy, Eva Sticová, Mohammad al-Edreesi, A. S. Knisely, Stanislav Kmoch, M Jirsa, Alfred H. Schinkel

    出版 2012
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  3. 3
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome 由 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

    出版 2013
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  4. 4
    <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

    <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome 由 Sarah L. Stenton, Markéta Tesařová, Н Л Шеремет, Claudia B. Catarino, Valério Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka‐Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary Kay Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska‐Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch

    出版 2022
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  5. 5
    Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

    Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2 由 Alice E. Davidson, Petra Lišková, Cerys J. Evans, Ľubica Ďuďáková, Lenka Nosková, Nikolas Pontikos, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Zbyněk Kozmík, Hannah J. Levis, Nwamaka J. Idigo, Noriaki Sasai, Geoffrey J. Maher, James Bellingham, Neyme Veli, Neil D. Ebenezer, Michael E. Cheetham, Julie T. Daniels, Caroline Thaung, Kateřina Jirsová, Vincent Plagnol, Martin Filipec, Stanislav Kmoch, Stephen J. Tuft, Alison J. Hardcastle

    出版 2015
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  6. 6
    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) 由 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

    出版 2006
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