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There are 15985 results for: content related to: Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

  1. Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 542–554, M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, L Pezzoli, A Vetro, D Barachetti, L Boni, D Federici, AM Soto, JV Comas, P Ferrazzi and O Zuffardi

    Article first published online : 25 APR 2011, DOI: 10.1111/j.1399-0004.2011.01674.x

  2. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301

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    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  4. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 236–246, D Hofer, K Paul, K Fantur, M Beck, A Roubergue, A Vellodi, BJ Poorthuis, H Michelakakis, B Plecko and E Paschke

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01379.x

  5. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  6. Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 319–326, A.S. Sie, J.B. Prins, W.A.G. van Zelst-Stams, J.A. Veltman, I. Feenstra and N. Hoogerbrugge

    Article first published online : 22 JUN 2014, DOI: 10.1111/cge.12433

  7. Petrological and Geochemical Characteristics of Intrusive Rocks Related to Porphyry Copper Mineralization and the Implications for the Genesis of Deposits in the Namosi area, Viti Levu, Republic of the Fiji Islands

    Resource Geology

    Volume 60, Issue 1, March 2010, Pages: 35–51, Takayuki Tanaka, Akira Imai, Saori Egashira, Sachihiro Sakomoto, Kentaro Yasunaga and Katsuhiko Maeda

    Article first published online : 22 FEB 2010, DOI: 10.1111/j.1751-3928.2010.00113.x

  8. Practical considerations in the clinical application of whole-exome sequencing

    Clinical Genetics

    V. Shashi, A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y.H. Jiang, D.B. Goldstein and M.T. McDonald

    Article first published online : 15 MAR 2015, DOI: 10.1111/cge.12569

  9. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 244–250, M Pinheiro, C Pinto, A Peixoto, I Veiga, B Mesquita, R Henrique, P Lopes, O Sousa, M Fragoso, LM Dias, M Baptista, C Marinho, E Mangold, C Vaccaro, DG Evans, S Farrington, MG Dunlop and MR MR Teixeira

    Article first published online : 27 DEC 2012, DOI: 10.1111/cge.12062

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    Impact of sea-ice processes on the carbonate system and ocean acidification at the ice-water interface of the Amundsen Gulf, Arctic Ocean

    Journal of Geophysical Research: Oceans

    Volume 118, Issue 12, December 2013, Pages: 7001–7023, Agneta Fransson, Melissa Chierici, Lisa A. Miller, Gauthier Carnat, Elizabeth Shadwick, Helmuth Thomas, Simon Pineault and Tim N. Papakyriakou

    Article first published online : 18 DEC 2013, DOI: 10.1002/2013JC009164

  11. Early onset of renal cancer in a family with Birt–Hogg–Dubé syndrome

    Clinical Genetics

    Volume 75, Issue 6, June 2009, Pages: 537–543, I Kluijt, D De Jong, HJ Teertstra, PH Axwijk, JJP Gille, K Bell, A Van Rens, AWG Van Der Velden, L Middelton and S Horenblas

    Article first published online : 23 MAR 2009, DOI: 10.1111/j.1399-0004.2009.01159.x

  12. Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 110–116, P Ostergaard, MA Simpson and S Jeffery

    Article first published online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01706.x

  13. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

  14. Phylogenetics and classification of the pantropical fern family Lindsaeaceae

    Botanical Journal of the Linnean Society

    Volume 163, Issue 3, July 2010, Pages: 305–359, SAMULI LEHTONEN, HANNA TUOMISTO, GERMINAL ROUHAN and MAARTEN J. M. CHRISTENHUSZ

    Article first published online : 16 JUL 2010, DOI: 10.1111/j.1095-8339.2010.01063.x

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    Natural laboratory NW Bohemia: Comprehensive fluid studies between 1992 and 2005 used to trace geodynamic processes

    Geochemistry, Geophysics, Geosystems

    Volume 9, Issue 4, April 2008, Karin Bräuer, Horst Kämpf, Samuel Niedermann, Gerhard Strauch and Jiři Tesař

    Article first published online : 11 APR 2008, DOI: 10.1029/2007GC001921

  16. Nursing home care: whodunit?

    Journal of Clinical Nursing

    Volume 15, Issue 11, November 2006, Pages: 1426–1439, Aggie TG Paulus, Arno JA Van Raak and Femke B Keijzer

    Article first published online : 1 SEP 2006, DOI: 10.1111/j.1365-2702.2005.01504.x

  17. Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

    Clinical Genetics

    C. Helsmoortel, G. Vandeweyer, P. Ordoukhanian, F. Van Nieuwerburgh, N. Van der Aa and R.F. Kooy

    Article first published online : 13 OCT 2014, DOI: 10.1111/cge.12470

  18. Geochemical insight into differences in the physical structures and dynamics of two adjacent maar lakes at Mt. Vulture volcano (southern Italy)

    Geochemistry, Geophysics, Geosystems

    Volume 14, Issue 5, May 2013, Pages: 1411–1434, A. Caracausi, M. Nicolosi, P. M. Nuccio, R. Favara, M. Paternoster and A. Rosciglione

    Article first published online : 6 MAY 2013, DOI: 10.1002/ggge.20111

  19. Agglomeration of biomass fired fluidized bed gasifier and combustor

    The Canadian Journal of Chemical Engineering

    Volume 87, Issue 5, October 2009, Pages: 656–684, Vichuda Mettanant, Prabir Basu and James Butler

    Article first published online : 22 SEP 2009, DOI: 10.1002/cjce.20211

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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