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There are 17893 results for: content related to: Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

  1. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1719–1725, Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, Hironao Numabe, Yoriko Watanabe, Haruo Mikami, Tatsuro Kondoh, Hiroshi Kitoh, Ryusuke Sugiyama, Nobuhiko Okamoto, Tsutomu Ogata, Riccardo Fodde, Seiji Mizuno, Kyoko Takamura, Masayuki Egashira, Nozomu Sasaki, Sachiro Watanabe, Shigeru Nishimaki, Fumio Takada, Toshiro Nagai, Yasushi Okada, Yoshikazu Aoka, Kazushi Yasuda, Mitsuji Iwasa, Shigetoyo Kogaki, Naoki Harada, Takeshi Mizuguchi and Naomichi Matsumoto

    Article first published online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31353

  2. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1452–1459, Brian Hon-Yin Chung, Stephen Tak-Sum Lam, Tony Ming-For Tong, Susanna Yuk-Han Li, Kin-Shing Lun, Daniel Hon-Chuen Chan, Susanna Fung-Shan Fok, June Siu-Fong Or, David Keith Smith, Wanling Yang and Yu-Lung Lau

    Article first published online : 16 JUN 2009, DOI: 10.1002/ajmg.a.32918

  3. Myhre syndrome

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 503–513, C. Le Goff, C. Michot and V. Cormier-Daire

    Article first published online : 2 APR 2014, DOI: 10.1111/cge.12365

  4. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 7, 1 April 2007, Pages: 694–698, Akira Nishimura, Haruya Sakai, Shiro Ikegawa, Hiroshi Kitoh, Nobuyuki Haga, Satoshi Ishikiriyama, Toshiro Nagai, Fumio Takada, Takako Ohata, Fumihiko Tanaka, Hotaka Kamasaki, Hirotomo Saitsu, Takeshi Mizuguchi and Naomichi Matsumoto

    Article first published online : 7 MAR 2007, DOI: 10.1002/ajmg.a.31639

  5. You have free access to this content
    Correction to “Temporal and crustal effects on differentiation of tholeiite to calcalkaline and ferro-trachytic suites, High Lava Plains, Oregon, USA”

    Geochemistry, Geophysics, Geosystems

    Volume 14, Issue 5, May 2013, Pages: 1678–1684, Martin J. Streck and Anita L. Grunder

    Article first published online : 31 MAY 2013, DOI: 10.1002/ggge.20099

  6. Ionization Potential

    Definition

    Encyclopedia of Inorganic Chemistry

    Published Online : 15 MAR 2006, DOI: 10.1002/0470862106.id448

  7. You have free access to this content
    Erratum

    Journal of Medical Virology

    Volume 85, Issue 9, September 2013, Pages: 1685–1686,

    Article first published online : 1 JUL 2013, DOI: 10.1002/jmv.23677

  8. Ionization Potential

    Definition

    Encyclopedia of Inorganic and Bioinorganic Chemistry

    Published Online : 15 DEC 2011, DOI: 10.1002/9781119951438.eibd0435

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    Solar and interplanetary sources of major geomagnetic storms (Dst ≤ −100 nT) during 1996–2005

    Journal of Geophysical Research: Space Physics (1978–2012)

    Volume 112, Issue A10, October 2007, J. Zhang, I. G. Richardson, D. F. Webb, N. Gopalswamy, E. Huttunen, J. C. Kasper, N. V. Nitta, W. Poomvises, B. J. Thompson, C.-C. Wu, S. Yashiro and A. N. Zhukov

    Article first published online : 12 OCT 2007, DOI: 10.1029/2007JA012321

  10. Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 684–696, Kathryn F. Peters and Stephen A. Petrill

    Article first published online : 22 FEB 2011, DOI: 10.1002/ajmg.a.33863

  11. Opportunity costs, industry dynamics, and corporate diversification: Evidence from the cardiovascular medical device industry, 1976–2004

    Strategic Management Journal

    Volume 34, Issue 11, November 2013, Pages: 1265–1287, Brian Wu

    Article first published online : 2 APR 2013, DOI: 10.1002/smj.2069

  12. Toxicological screening of human plasma by on-line SPE-HPLC-DAD: identification and quantification of basic drugs and metabolites

    Biomedical Chromatography

    Ludmila Mut, Thomas Grobosch, Torsten Binscheck-Domaß and Wolfgang Frenzel

    Article first published online : 17 NOV 2014, DOI: 10.1002/bmc.3377

  13. Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 528–534, Marco Castori, Silvia Morlino, Marco Ritelli, Francesco Brancati, Carmelilia De Bernardo, Marina Colombi and Paola Grammatico

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36301

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    Nutrient (N, P) budgets for the Red River basin (Vietnam and China)

    Global Biogeochemical Cycles

    Volume 19, Issue 2, June 2005, Le Thi Phuong Quynh, Gilles Billen, Josette Garnier, Sylvain Théry, Cédric Fézard and Chau Van Minh

    Article first published online : 26 MAY 2005, DOI: 10.1029/2004GB002405

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    Some phase equilibrium systematics of lherzolite melting: I

    Geochemistry, Geophysics, Geosystems

    Volume 3, Issue 3, March 2002, Pages: 1–33, John Longhi

    Article first published online : 22 MAR 2002, DOI: 10.1029/2001GC000204

  16. Pesticides, Mycotoxins and Residues Analysis in Food

    Standard Article

    Encyclopedia of Analytical Chemistry

    M. Volante and P. Branca

    Published Online : 15 SEP 2006, DOI: 10.1002/9780470027318.a1022

  17. Structural steels with up to 12 % chromium

    Standard Article

    Corrosion Handbook

    Lothar Hasenberg and Roman Bender

    Published Online : 27 APR 2009, DOI: 10.1002/9783527610433.chb11120

  18. Targeted quantitative bioanalysis in plasma using liquid chromatography/high-resolution accurate mass spectrometry: an evaluation of global selectivity as a function of mass resolving power and extraction window, with comparison of centroid and profile modes

    Rapid Communications in Mass Spectrometry

    Volume 25, Issue 19, 15 October 2011, Pages: 2863–2878, Yuan-Qing Xia, Jim Lau, Timothy Olah and Mohammed Jemal

    Article first published online : 1 SEP 2011, DOI: 10.1002/rcm.5178

  19. International Cross-Listings and Subsequent Security-Market Choices: Evidence from ADRs

    Financial Review

    Volume 48, Issue 2, May 2013, Pages: 311–341, Narjess Boubakri, Jean-Claude Cosset and Anis Samet

    Article first published online : 4 APR 2013, DOI: 10.1111/fire.12005

  20. The penultimate rotamer library

    Proteins: Structure, Function, and Bioinformatics

    Volume 40, Issue 3, 15 August 2000, Pages: 389–408, Simon C. Lovell, J. Michael Word, Jane S. Richardson and David C. Richardson

    Article first published online : 12 JUN 2000, DOI: 10.1002/1097-0134(20000815)40:3<389::AID-PROT50>3.0.CO;2-2