检索结果 - Elise Davis
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Psychometric properties of the quality of life questionnaire for children with CP 由 Elizabeth Waters, Elise Davis, Andrew Mackinnon, Roslyn N. Boyd, H. Kerr Graham, Sing Kai Lo, Rory Wolfe, Richard J. Stevenson, Kristie Bjornson, Eve Blair, Peter Hoare, Ulrike Ravens‐Sieberer, Dinah Reddihough
出版 2006Artigo -
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Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome 由 Bart Loeys, Elizabeth E. Gerber, Douglas L. Riegert‐Johnson, Sarah Iqbal, Pat Whiteman, Vivienne McConnell, Chandramouli Chillakuri, Daniela Macaya, Paul Coucke, Anne De Paepe, Daniel P. Judge, Fredrick M. Wigley, Elise Davis, Helen J. Mardon, Penny A. Handford, Douglas R. Keene, Lynn Y. Sakai, Harry C. Dietz
出版 2010Artigo -
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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival 由 Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Annika Aldinger, Ji-Won Choi, Elise Davis, Dianne Abuelo, Michael S. Adamowicz, Jumana Y. Al‐Aama, Lina Basel‐Vanagaite, Brianna Fernandez, Marie T. Greally, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tüysüz, Berrin Yüksel‐Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, Zsolt Urbán
出版 2009Artigo -
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen 由 U. Schwarze, Tim Cundy, Shawna M. Pyott, H. E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen M. Raney, Dusica Babovic‐Vuksanovic, Joan M. Stoler, Ziva Ben‐Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida I. Al‐Aqeel, Mark C. Hannibal, Lucas Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John D. Mahan, Rosemarie Smith, Kwame Anyane‐Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elise Davis, In S. Kim, Mary Ann Weis, David R. Eyre, Peter H. Byers
出版 2012Artigo
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