Ngā hua rapu - Hana Hartmannová

  • E whakaatu ana i te 1 - 11 hua o te 11
Whakamahine hua
  1. 1
    Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

    Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients mā Stanislav Kmoch, Hana Hartmannová, Blanka Stibůrková, Jakub Krijt, Marie Zikánová, Ivan Šebesta

    I whakaputaina 2000
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  3. 3
    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 mā 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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  4. 4
    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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  5. 5
    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 mā 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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  6. 6
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  7. 7
    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 mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  8. 8
    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

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

    I whakaputaina 2006
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  9. 9
    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 mā 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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  10. 10
    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness mā Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Shenghao Cao, Somayyeh Fahiminiya, Haitao Ren, Ian M. MacDonald, I. López, Vincent Sun, Vafa Keser, Ayesha Khan, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Kateřina Hodaňová, Lenka Piherová, Ladislav Kuchař, A Baxová, R Chen, Orlando Graziani Póvoas Barsottini, Angela Pyle, Helen Griffin, Miranda Splitt, Juliana Maria Ferraz Sallum, John Tolmie, Julian R. Sampson, Patrick F. Chinnery, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Eyal Banin, Dror Sharon, Sayantanee Dutta, Rudi Grebler, C. Helfrich-Foerster, José Luiz Pedroso, Doris Kretzschmar, Michel Cayouette, R. K. Koenekoop

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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    I tiakina i:
  11. 11
    POLRMT mutations impair mitochondrial transcription causing neurological disease

    POLRMT mutations impair mitochondrial transcription causing neurological disease mā Monika Oláhová, Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans‐Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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