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There are 17312 results for: content related to: The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

  1. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2820–2828, Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, Tatjana Bierhals, Madhusudan R. Nandineni, Sumita Danda, Debashish Danda, Hitesh Shah, Sandeep Vijayan, Kalpana Gowrishankar, Shubha R Phadke, Abdul Mueed Bidchol, Anand Prahalad Rao, Sheela Nampoothiri, Kerstin Kutsche and K.M. Girisha

    Article first published online : 17 SEP 2012, DOI: 10.1002/ajmg.a.35620

  2. Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease

    Australian Veterinary Journal

    Volume 80, Issue 11, November 2002, Pages: 695–697, PJ HEALY, JA DENNIS, PA WINDSOR, KD PIERCE and PR SCHOFIELD

    Article first published online : 10 MAR 2008, DOI: 10.1111/j.1751-0813.2002.tb11301.x

  3. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 118–126, Valérie Delague, Eliane Chouery, Sandra Corbani, Ismat Ghanem, Suhail Aamar, Judith Fischer, Ephrat Levy-Lahad, J. Andoni Urtizberea and André Mégarbané

    Article first published online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30906

  4. You have full text access to this OnlineOpen article
    Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

    Molecular Genetics & Genomic Medicine

    Jie Yang, Shih-Kai Wang, Murim Choi, Bryan M. Reid, Yuanyuan Hu, Yuan-Ling Lee, Curtis R. Herzog, Hera Kim-Berman, Moses Lee, Paul J. Benke, K. C. Kent Lloyd, James P. Simmer and Jan C.-C. Hu

    Article first published online : 15 SEP 2014, DOI: 10.1002/mgg3.111

  5. You have full text access to this OnlineOpen article
    A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2334–2338, Rojeen Shahni, Yehani Wedatilake, Maureen A. Cleary, Keith J. Lindley, Keith R. Sibson and Shamima Rahman

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36065

  6. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1491–1494, Johanna Syvänen, Ilkka Helenius, Matti Hero, Outi Mäkitie and Jaakko Ignatius

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35872

  7. Preservation of person-specific knowledge in semantic memory disorder: A longitudinal investigation in two cases of dementia

    Journal of Neuropsychology

    Volume 7, Issue 1, March 2013, Pages: 132–138, Catherine Haslam and Mazen Sabah

    Article first published online : 30 MAR 2012, DOI: 10.1111/j.1748-6653.2012.02030.x

  8. Epidermal growth factor receptor status in four carcinoma of the cervix cell lines

    International Journal of Gynecological Cancer

    Volume 1, Issue 4, July/August 1991, Pages: 185–192, K.S. Tonkin, M. Berger and M. Ormerod

    Article first published online : 24 FEB 2002, DOI: 10.1046/j.1525-1438.1991.01040185.x

  9. Inhibition of cysteine protease and growth of Staphylococcus aureus V8 and poliovirus by phosphorylated cystatin α conjugate of skin

    BioFactors

    Volume 10, Issue 4, 1999, Pages: 339–345, Masae Takahashi, Tadashi Tezuka, Bruce Korant and Nobuhiko Katunuma

    Article first published online : 16 DEC 2008, DOI: 10.1002/biof.5520100404

  10. Margin Changes and Futures Trading Activity: a New Approach

    European Financial Management

    Volume 19, Issue 1, January 2013, Pages: 45–71, Kate Phylaktis and Antonis Aristidou

    Article first published online : 27 JAN 2013, DOI: 10.1111/j.1468-036X.2012.00565.x

  11. Gesture comprehension, knowledge and production in Alzheimer’s disease

    European Journal of Neurology

    Volume 19, Issue 7, July 2012, Pages: 1037–1044, M. Rousseaux, J. Rénier, L. Anicet, F. Pasquier and M. A. Mackowiak-Cordoliani

    Article first published online : 16 FEB 2012, DOI: 10.1111/j.1468-1331.2012.03674.x

  12. The effects of intralaboratory modifications to media composition and cell source on the expression of pharmaceutically relevant transporters and metabolizing genes in the Caco-2 cell line

    Journal of Pharmaceutical Sciences

    Volume 101, Issue 10, October 2012, Pages: 3962–3978, Wyatt J. Roth, David J. Lindley, Stephen M. Carl and Gregory T. Knipp

    Article first published online : 11 JUL 2012, DOI: 10.1002/jps.23241

  13. Margin Changes and Futures Trading Activity: a New Approach

    European Financial Management

    Kate Phylaktis and Antonis Aristidou

    Article first published online : 16 AUG 2010, DOI: 10.1111/j.1468-036X.2010.00565.x

  14. Using Firm-Level Leverage as an Investment Strategy

    Journal of Forecasting

    Volume 31, Issue 3, April 2012, Pages: 260–279, Yaz Gűlnur Muradoğlu and Sheeja Sivaprasad

    Article first published online : 1 MAR 2011, DOI: 10.1002/for.1221

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    Corporate Yield Spreads: Default Risk or Liquidity? New Evidence from the Credit Default Swap Market

    The Journal of Finance

    Volume 60, Issue 5, October 2005, Pages: 2213–2253, FRANCIS A. LONGSTAFF, SANJAY MITHAL and ERIC NEIS

    Article first published online : 16 SEP 2005, DOI: 10.1111/j.1540-6261.2005.00797.x

  16. You have free access to this content
    Homogeneity of Borrelia japonica and heterogeneity of Borrelia afzelii and ‘Borrelia tanukii' isolated in Japan, determined from ospC gene sequences

    FEMS Microbiology Letters

    Volume 153, Issue 2, August 1997, Pages: 287–293, Toshiyuki Masuzawa, Tetsuro Komikado, Kazuhide Kaneda, Takako Fukui, Katsuji Sawaki and Yasutake Yanagihara

    Article first published online : 17 JAN 2006, DOI: 10.1111/j.1574-6968.1997.tb12587.x

  17. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1161–1165, Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet Ausems, Jose Barcena Llona, Juan Bautista Lorite, Nadine van der Beek, Luisa Bonafe, Mario Cuk, Marc D'Hooghe, Baziel Engelen, A. Farouk, K. Fumic, E. Garcia-Delgado, Andreas Herzog, J. Hurst, Simon Jones, M. H. Kariminejad, Aynur Küçükçongar, W. Lissens, Allan Lund, Danielle Majoor-Krakauer, Shingo Kumamoto, E. Maravi, Suely Marie, Eugen Mengel, Irene Mavridou, E. Munteis Olivas, H. Najmabadi, Toshika Okumiya, Stojan Peric, Eduard Paschke, Barbara Plecko, Wim Robberecht, Piraye Serdaroglu, Mohammad Shboul, Mojca Zerjav Tansek, A. Tarnutzer, Vidosava Rakocevic Stojanovic, Anna Tylki-Szymanska, Maria Venâncio and Kristof Verhoeven

    Article first published online : 29 MAY 2012, DOI: 10.1002/humu.22108

  18. The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

    Clinical Genetics

    A. Peixoto, C. Santos, P. Pinto, M. Pinheiro, P. Rocha, C. Pinto, S. Bizarro, I. Veiga, A.S. Principe, S. Maia, F. Castro, R. Couto, A. Gouveia and M.R. Teixeira

    Article first published online : 26 JUL 2014, DOI: 10.1111/cge.12441

  19. Scientists in pursuit of Kentucky racehorse disease

    Australian Veterinary Journal

    Volume 80, Issue 11, November 2002, Page: 697,

    Article first published online : 10 MAR 2008, DOI: 10.1111/j.1751-0813.2002.tb11302.x

  20. You have full text access to this OnlineOpen article
    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: E1709–E1766, Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy and Elfride De Baere

    Article first published online : 3 AUG 2010, DOI: 10.1002/humu.21336