Rezultati - Alena Puchmajerová

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation od Karim Kouz, Christina Lißewski, Stephanie Spranger, Diana Mitter, Angelika Rieß, Vanesa López‐González, Sabine Lüttgen, Hatip Aydın, Florian von Deimling, Christina Evers, Andreas Hahn, Maja Hempel, Ulrike Issa, Anne‐Karin Kahlert, A. Lieb, Pablo Villavicencio‐Lorini, María Juliana Ballesta‐Martínez, Sheela Nampoothiri, Angela Ovens‐Raeder, Alena Puchmajerová, Robin Satanovskij, Heide Seidel, Stephan Unkelbach, Bernhard Zabel, Kerstin Kutsche, Martin Zenker

    Izdano 2016
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  2. 2
    Pontocerebellar hypoplasia type 1

    Pontocerebellar hypoplasia type 1 od Sabine Rudnik–Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, László Sztriha, J. Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, P. G. Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

    Izdano 2013
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  3. 3
    ENIGMA<i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired<i>CHEK2</i>Germline Missense Variants Associated with Increased Breast Cancer Risk

    ENIGMA<i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired<i>CHEK2</i>Germline Missense Variants Associated with Increased Breast Cancer Risk od Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Yoichiro Kamatani, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas J. Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renata Michalovska, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux

    Izdano 2023
    Polni tekst Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  4. 4
    Data from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk

    Data from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with... od Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Yoichiro Kamatani, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas J. Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renáta Michalovská, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux

    Izdano 2023
    Polni tekst
    Pré-impressão
    Dodaj v priljubljene
    Shranjeno v:

Iskalna orodja: