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There are 18060 results for: content related to: A systematic review of tools, languages, and methodologies for mashup development

  1. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China

    Clinical Endocrinology

    Volume 83, Issue 4, October 2015, Pages: 518–526, Jing Cheng, Ruizhu Lin, Wen Zhang, Guochang Liu, Huiying Sheng, Xiuzhen Li, Zhihong Zhou, Xiaojian Mao and Li Liu

    Version of Record online : 7 MAY 2015, DOI: 10.1111/cen.12799

  2. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 8–21, Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

    Version of Record online : 3 NOV 2011, DOI: 10.1002/humu.21627

  3. Biomashups: the new world of exploratory bioinformatics?

    Concurrency and Computation: Practice and Experience

    Volume 23, Issue 11, 10 August 2011, Pages: 1169–1178, James M. Hogan, Jiro Sumitomo, Paul Roe and Felicity Newell

    Version of Record online : 28 AUG 2010, DOI: 10.1002/cpe.1598

  4. Modeling the mashup ecosystem: structure and growth

    R&D Management

    Volume 40, Issue 1, January 2010, Pages: 40–49, Michael Weiss and G. R. Gangadharan

    Version of Record online : 16 DEC 2009, DOI: 10.1111/j.1467-9310.2009.00582.x

  5. Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil

    Haemophilia

    Volume 19, Issue 5, September 2013, Pages: 773–781, C. Rosset, I. A. Vieira, M. Sinigaglia, R. P. Gorziza, F. M. Salzano and E. Bandinelli

    Version of Record online : 28 MAY 2013, DOI: 10.1111/hae.12172

  6. You have full text access to this OnlineOpen article
    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 144–157, Gail C. Jackson, Laureane Mittaz-Crettol, Jacqueline A. Taylor, Geert R. Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M. Hall, Amaka Offiah, Michael J. Wright, Ravi Savarirayan, Gen Nishimura, Simon C. Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl and Michael D. Briggs

    Version of Record online : 31 OCT 2011, DOI: 10.1002/humu.21611

  7. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  8. Privacy-preserving authorization method for mashups

    Security and Communication Networks

    Volume 8, Issue 18, December 2015, Pages: 4421–4435, Danfeng Yan, Yuan Tian and Fangchun Yang

    Version of Record online : 11 AUG 2015, DOI: 10.1002/sec.1322

  9. Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 511–520, Hilde Monica Frostad Riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen, Gaute Martin Hansen, Dag Malm and Øivind Nilssen

    Version of Record online : 23 JAN 2012, DOI: 10.1002/humu.22005

  10. Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 316–326, Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, Satu-Leena Sallinen, Carola Saloranta, Carol Clericuzio, Géraldine Viot, Julia Tantau, Sophie Blesson, Sylvie Cloarec, Marie Christine Machet, David Chitayat, Christelle Thauvin, Nicole Laurent, Julian R. Sampson, Jonathan A Bernstein, Alix Clemenson, Fabienne Prieur, Laurent Daniel, Annie Levy-Mozziconacci, Katherine Lachlan, Jean Luc Alessandri, François Cartault, Jean Pierre Rivière, Nicole Picard, Clarisse Baumann, Anne Lise Delezoide, Maria Belar Ortega, Nicolas Chassaing, Philippe Labrune, Sui Yu, Helen Firth, Diana Wellesley, Martin Bitzan, Ahmed Alfares, Nancy Braverman, Lotte Krogh, John Tolmie, Harald Gaspar, Bérénice Doray, Silvia Majore, Dominique Bonneau, Stéphane Triau, Chantal Loirat, Albert David, Deborah Bartholdi, Amir Peleg, Damien Brackman, Rosario Stone, Ralph DeBerardinis, Pierre Corvol, Annie Michaud, Corinne Antignac and Marie Claire Gubler

    Version of Record online : 22 DEC 2011, DOI: 10.1002/humu.21661

  11. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 552–559, G Storkanova, H Vlaskova, N Chuzhanova, J Zeman, V Stranecky, F Majer, K Peskova, O Luksan, M Jirsa, M Hrebicek and L Dvorakova

    Version of Record online : 7 FEB 2013, DOI: 10.1111/cge.12085

  12. Spectrum of F8 gene mutations in haemophilia A patients from Slovenia

    Haemophilia

    Volume 18, Issue 6, November 2012, Pages: e420–e423, M. Debeljak, L. Kitanovski, A. Trampuš Bakija and M. Benedik Dolničar

    Version of Record online : 7 SEP 2012, DOI: 10.1111/hae.12003

  13. You have free access to this content
    Classifying variants of CDKN2A using computational and laboratory studies

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 900–911, Peter J. Miller, Sekhar Duraisamy, Joan A. Newell, Philip A. Chan, Mark M. Tie, Amy E. Rogers, Claire K. Ankuda, Genevieve M. von Walstrom, Jeffrey P. Bond and Marc S. Greenblatt

    Version of Record online : 26 JUL 2011, DOI: 10.1002/humu.21504

  14. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 489–495, Roberta R. Lemos, Eliana M. Ramos, Andrea Legati, Gaël Nicolas, Emma M. Jenkinson, John H. Livingston, Yanick J. Crow, Dominique Campion, Giovanni Coppola and João R. M. Oliveira

    Version of Record online : 6 APR 2015, DOI: 10.1002/humu.22778

  15. Hedgehog signaling update

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 1875–1914, M. Michael Cohen Jr.

    Version of Record online : 15 JUL 2010, DOI: 10.1002/ajmg.a.32909

  16. Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

    Prenatal Diagnosis

    Volume 36, Issue 5, May 2016, Pages: 418–423, Fahad Hakami, Mitchell W. Dillon, Matthew Lebo and Heather Mason-Suares

    Version of Record online : 28 MAR 2016, DOI: 10.1002/pd.4797

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    Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency

    British Journal of Haematology

    Volume 141, Issue 3, May 2008, Pages: 298–308, Melanie J. Percy and Terry R. Lappin

    Version of Record online : 3 MAR 2008, DOI: 10.1111/j.1365-2141.2008.07017.x

  18. Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 103, Issue 1, January 2015, Pages: 51–61, E. Merello, S. Mascelli, A. Raso, G. Piatelli, A. Consales, A. Cama, Z. Kibar, V. Capra and Patrizia De Marco

    Version of Record online : 10 SEP 2014, DOI: 10.1002/bdra.23305

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    MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  20. Variable clinical expression in patients with mosaicism for KCNQ2 mutations

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2314–2318, Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaetan Lesca, Nicole Philip and Laurent Villard

    Version of Record online : 10 MAY 2015, DOI: 10.1002/ajmg.a.37152