Výsledky vyhledávání - Maren Schmidt‐Rimpler

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  1. 1
    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations

    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations Autor Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Mégarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae‐Joon Cho, F. Bedeschi, Francesco Benedicenti, Roberto Mendoza‐Londono, Margherita Silengo, Maren Schmidt‐Rimpler, Jürgen W. Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti‐Furga

    Vydáno 2010
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    Artigo
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  2. 2
    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family Autor Jin Dai, O.-H. Kim, T.-J. Cho, Maren Schmidt‐Rimpler, H. Tonoki, Kazuharu Takikawa, Nobuhiko Haga, K. Miyoshi, Hiroshi Kitoh, Won Joon Yoo, In Ho Choi, Hae‐Ryong Song, Dong‐Kyu Jin, H. T. Kim, Hotaka Kamasaki, Paola Bianchi, Giedre Grigelioniené, Sheela Nampoothiri, Masahiro Minagawa, Shinichirou Miyagawa, Toshiyuki Fukao, Carlo Marcelis, M. C. E. Jansweijer, R Hennekam, F. Bedeschi, Aki Mustonen, Qing Jiang, Hirofumi Ohashi, Tatsuya Furuichi, Sheila Unger, Bernhard Zabel, Ekkehart Lausch, Andrea Superti‐Furga, Gen Nishimura, Shiro Ikegawa

    Vydáno 2010
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