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There are 30882 results for: content related to: Human Variation 2.0: Using GWAS to Probe Intermediate Phenotypes

  1. Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 873–881, Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, Christian Vasseur, Catherine Costa, Asma Chaoui, Natacha Martin, Bruno Costes, Michel Goossens, Emmanuelle Girodon, Pascale Fanen and Alexandre Hinzpeter

    Article first published online : 28 MAR 2013, DOI: 10.1002/humu.22300

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    Longitudinal Analysis of Quality of Life, Clinical, Radiographic, Echocardiographic, and Laboratory Variables in Dogs with Myxomatous Mitral Valve Disease Receiving Pimobendan or Benazepril: The QUEST Study

    Journal of Veterinary Internal Medicine

    Volume 27, Issue 6, November/December 2013, Pages: 1441–1451, J. Häggström, A. Boswood, M. O'Grady, O. Jöns, S. Smith, S. Swift, M. Borgarelli, B. Gavaghan, J.-G. Kresken, M. Patteson, B. Åblad, C.M. Bussadori, T. Glaus, A. Kovačević, M. Rapp, R.A. Santilli, A. Tidholm, A. Eriksson, M.C. Belanger, M. Deinert, C.J.L. Little, C. Kvart, A. French, M. Rønn-Landbo, G. Wess, A. Eggertsdottir, M. Lynne O'Sullivan, M. Schneider, C.W. Lombard, J. Dukes-McEwan, R. Willis, A. Louvet and R. DiFruscia

    Article first published online : 6 SEP 2013, DOI: 10.1111/jvim.12181

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    Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

    Human Mutation

    Volume 34, Issue 2, February 2013, Page: 408, D. M. Warthen, E. C. Moore, B. M. Kamath, J. J. D. Morrissette, P. A. Sanchez-Lara, D. A. Piccoli, I. D. Krantz and N. B. Spinner

    Article first published online : 20 DEC 2012, DOI: 10.1002/humu.22255

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    Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate12

    Vol. 27, Issue 5, 436–443, Article first published online: 30 MAR 2006

  4. New project to support scientific collaboration electronically

    Eos, Transactions American Geophysical Union

    Volume 75, Issue 26, 28 June 1994, Pages: 289–298, C. R. Clauer, C. E. Rasmussen, R. J. Niciejewski, T. L. Killeen, J. D. Kelly, Y. Zambre, T. J. Rosenberg, P. Stauning, E. Friis-Christensen, S. B. Mende, T. E. Weymouth, A. Prakash, S. E. McDaniel, G. M. Olson, T. A. Finholt, D. E. Atkins

    Article first published online : 3 JUN 2011, DOI: 10.1029/94EO00954

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    Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 434–441, Christopher M. Watson, Laura A. Crinnion, Joanne E. Morgan, Sally M. Harrison, Christine P. Diggle, Julian Adlard, Helen A. Lindsay, Nick Camm, Ruth Charlton, Eamonn Sheridan, David T. Bonthron, Graham R. Taylor and Ian M. Carr

    Article first published online : 17 MAR 2014, DOI: 10.1002/humu.22490

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    Majority Vote and Other Problems when using Computational Tools

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 912–914, Mauno Vihinen

    Article first published online : 28 JUN 2014, DOI: 10.1002/humu.22600

  7. HSF4 Mutation p.Arg116His Found in Age-Related Cataracts and in Normal Populations Produces Childhood Lamellar Cataract in Transgenic Mice

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1068–1071, Zhe Jing, Rajendra K. Gangalum, Ankur M. Bhat, Yoshiko Nagaoka, Meisheng Jiang and Suraj P. Bhat

    Article first published online : 23 JUL 2014, DOI: 10.1002/humu.22610

  8. Calcium influx and postsynaptic proteins coordinate the dendritic filopodium-spine transition

    Developmental Neurobiology

    Volume 74, Issue 10, October 2014, Pages: 1011–1029, Hsiao-Tang Hu and Yi-Ping Hsueh

    Article first published online : 27 APR 2014, DOI: 10.1002/dneu.22181

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    A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

    Human Mutation

    Volume 35, Issue 4, April 2014, Page: 512, Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung Lee, Marina Kennerson, Ya-Ming Hou, Garth Nicholson and Anthony Antonellis

    Article first published online : 18 FEB 2014, DOI: 10.1002/humu.22527

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  10. Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1175–1178, Tanit Arnedo, Tania López-Hernández, Elena Jeworutzki, Xavier Capdevila-Nortes, Sònia Sirisi, Michael Pusch and Raúl Estévez

    Article first published online : 18 AUG 2014, DOI: 10.1002/humu.22622

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    How to Assess Causality of TMPRSS6 Mutations?

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 1043–1045, Laura Silvestri, Marco Rausa, Alessia Pagani, Antonella Nai and Clara Camaschella

    Article first published online : 17 APR 2013, DOI: 10.1002/humu.22321

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    Application of pulsed-excitation fluorescence imager for daylight detection of sparse life in tests in the Atacama Desert

    Journal of Geophysical Research: Biogeosciences (2005–2012)

    Volume 113, Issue G1, March 2008, S. Weinstein, D. Pane, L. A. Ernst, K. Warren-Rhodes, J. M. Dohm, A. N. Hock, J. L. Piatek, S. Emani, F. Lanni, M. Wagner, G. W. Fisher, E. Minkley, L. E. Dansey, T. Smith, E. A. Grin, K. Stubbs, G. Thomas, C. S. Cockell, L. Marinangeli, G. G. Ori, S. Heys, J. P. Teza, J. E. Moersch, P. Coppin, G. Chong Diaz, D. S. Wettergreen, N. A. Cabrol and A. S. Waggoner

    Article first published online : 18 JAN 2008, DOI: 10.1029/2006JG000319

  13. Mitral annulus displacement measured by two-dimensional speckle tracking imaging to assess the left ventricular longitudinal systolic function in coronary heart disease

    Journal of Clinical Ultrasound

    Volume 42, Issue 9, November/December 2014, Pages: 544–549, Pooja Thapa, Yuan Yuan Xing and Yu Hong Li

    Article first published online : 18 JUN 2014, DOI: 10.1002/jcu.22181

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    Bioassays: A Bubble-Mediated Intelligent Microscale Electrochemical Device for Single-Step Quantitative Bioassays (Adv. Mater. 27/2014)

    Advanced Materials

    Volume 26, Issue 27, July 16, 2014, Page: 4597, Fan Yang, Xiaolei Zuo, Zhenhua Li, Wangping Deng, Jiye Shi, Guojun Zhang, Qing Huang, Shiping Song and Chunhai Fan

    Article first published online : 14 JUL 2014, DOI: 10.1002/adma.201470181

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    Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 409–410, Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Article first published online : 7 JAN 2013, DOI: 10.1002/humu.22256

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    Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Vol. 34, Issue 1, 167–175, Article first published online: 11 OCT 2012

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    Everolimus Versus Mycophenolate Mofetil in Heart Transplantation: A Randomized, Multicenter Trial

    American Journal of Transplantation

    Volume 13, Issue 5, May 2013, Pages: 1203–1216, H. J. Eisen, J. Kobashigawa, R. C. Starling, D. F. Pauly, A. Kfoury, H. Ross, S.-S. Wang, B. Cantin, A. Van Bakel, G. Ewald, S. Hirt, H. Lehmkuhl, A. Keogh, M. Rinaldi, L. Potena, A. Zuckermann, G. Dong, C. Cornu-Artis and P. Lopez

    Article first published online : 22 FEB 2013, DOI: 10.1111/ajt.12181

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    Next Generation Genetic Testing for Retinitis Pigmentosa

    Human Mutation

    Volume 34, Issue 8, August 2013, Page: 1181, Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari E. Branham, Anneke I. den Hollander, Alexander Hoischen, Carel Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers and Hans Scheffer

    Article first published online : 12 JUN 2013, DOI: 10.1002/humu.22357

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    Next-generation genetic testing for retinitis pigmentosa1

    Vol. 33, Issue 6, 963–972, Article first published online: 19 MAR 2012

  18. Mutation of the GATA site in the erythroid cell–specific regulatory element of the ABO gene in a Bm subgroup individual

    Transfusion

    Volume 53, Issue 11pt2, November 2013, Pages: 2917–2927, Tamiko Nakajima, Rie Sano, Yoichiro Takahashi, Rieko Kubo, Keiko Takahashi, Yoshihiko Kominato, Junichi Tsukada, Haruo Takeshita, Toshihiro Yasuda, Makoto Uchikawa, Kazumi Isa and Kenichi Ogasawara

    Article first published online : 8 APR 2013, DOI: 10.1111/trf.12181

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    Novel strategies for classifying splice-site variants of unknown clinical significance in CFTR

    Human Mutation

    Volume 34, Issue 5, May 2013, Page: v, Catherine Costa

    Article first published online : 11 APR 2013, DOI: 10.1002/humu.22184

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    A Disruptive Paradigm of Genetic Data Sharing and Analysis

    Human Mutation

    Volume 34, Issue 9, September 2013, Page: iv, Richard Cotton

    Article first published online : 14 AUG 2013, DOI: 10.1002/humu.22195