Works about MULTIPLE epiphyseal dysplasia


Results: 179
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    Osteopoikilosis.

    Published in:
    2022
    By:
    • Mukai, Tomoyuki;
    • Morita, Yoshitaka
    Publication type:
    Case Study
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    Cartilage hair hypoplasia.

    Published in:
    1977
    By:
    • Siggers, D. C.;
    • Burke, J. B.;
    • Morris, B.;
    • Normand, I. C.;
    • Tanner, J. M.;
    • Williamson, D. A.
    Publication type:
    journal article
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    Osteopoikilosis.

    Published in:
    Applied Radiology, 2019, v. 48, n. 2, p. 40, doi. 10.37549/ar2570
    By:
    • Wallace, Stephen;
    • Towbin, Richard B.;
    • Towbin, Alexander J.
    Publication type:
    Article
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    Osteopathia striata.

    Published in:
    Applied Radiology, 2019, v. 48, n. 2, p. 38, doi. 10.37549/ar2564
    By:
    • Frey, Courtney;
    • Towbin, Richard B.;
    • Towbin, Alexander J.
    Publication type:
    Article
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    Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism.

    Published in:
    2017
    By:
    • Yoshinori Matsumoto;
    • La Rose, Jose;
    • Melissa Lim;
    • Adissu, Hibret A.;
    • Law, Napoleon;
    • Xiaohong Mao;
    • Feng Cong;
    • Mera, Paula;
    • Karsenty, Gerard;
    • Goltzman, David;
    • Changoor, Adele;
    • Lucia Zhang;
    • Stajkowski, Megan;
    • Grynpas, Marc D.;
    • Bergmann, Carsten;
    • Rottapel, Robert;
    • Matsumoto, Yoshinori;
    • Lim, Melissa;
    • Mao, Xiaohong;
    • Cong, Feng
    Publication type:
    journal article
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    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

    Published in:
    2017
    By:
    • Egunsola, Adetutu T.;
    • Yangjin Bae;
    • Ming-Ming Jiang;
    • Liu, David S.;
    • Yuqing Chen-Evenson;
    • Bertin, Terry;
    • Shan Chen;
    • Lu, James T.;
    • Nevarez, Lisette;
    • Magal, Nurit;
    • Raas-Rothschild, Annick;
    • Swindell, Eric C.;
    • Cohn, Daniel H.;
    • Gibbs, Richard A.;
    • Campeau, Philippe M.;
    • Shohat, Mordechai;
    • Lee, Brendan H.;
    • Bae, Yangjin;
    • Jiang, Ming-Ming;
    • Chen-Evenson, Yuqing
    Publication type:
    journal article
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    MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

    Published in:
    2005
    By:
    • Kennedy, Ann M.;
    • Inada, Masaki;
    • Krane, Stephen M.;
    • Christie, Paul T.;
    • Harding, Brian;
    • López-Otín, Carlos;
    • Sánchez, Luis M.;
    • Pannett, Anna A. J.;
    • Dearlove, Andrew;
    • Hartley, Claire;
    • Byrne, Michael H.;
    • Reed, Anita A. C.;
    • Nesbit, M. Andrew;
    • Whyte, Michael P.;
    • Thakker, Rajesh V.;
    • López-Otín, Carlos;
    • Sánchez, Luis M
    Publication type:
    journal article
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    Hermes.

    Published in:
    Pediatric Radiology, 2025, v. 55, n. 1, p. 205, doi. 10.1007/s00247-024-06137-7
    Publication type:
    Article
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