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There are 13179 results for: content related to: Overexpression of G100S mutation in PRKAG2 causes Wolff–Parkinson–White syndrome in zebrafish

  1. You have full text access to this OnlineOpen article
    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

  2. 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

  3. Proteus syndrome review: molecular, clinical, and pathologic features

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 111–119, M. Michael Cohen Jr.

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12266

  4. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 203–212, S. Malik

    Article first published online : 18 OCT 2013, DOI: 10.1111/cge.12276

  5. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  6. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

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    Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Article first published online : 6 AUG 2013, DOI: 10.1111/cge.12229

  8. You have full text access to this OnlineOpen article
    Strabismus genetics across a spectrum of eye misalignment disorders

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 103–111, X.C. Ye, V. Pegado, M.S. Patel and W.W. Wasserman

    Article first published online : 26 MAR 2014, DOI: 10.1111/cge.12367

  9. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 433–440, A.E. Bochem, J.C. van Capelleveen, G.M. Dallinga-Thie, A.W.M. Schimmel, M.M. Motazacker, I. Tietjen, R.R. Singaraja, M.R. Hayden, J.J.P. Kastelein, E.S.G. Stroes and G.K. Hovingh

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12201

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    Health care provider recommendations for reducing cancer risks among women with a BRCA1 or BRCA2 mutation

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 21–30, KA Metcalfe, C Kim-Sing, P Ghadirian, P Sun and SA Narod

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12233

  11. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241

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    Whole-genome copy number variation analysis in anophthalmia and microphthalmia

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 473–481, KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul-Rahman, BA Kozel, HH Zimmerman, U Broeckel and EV Semina

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12202

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    A systematic approach to assessing the clinical significance of genetic variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 453–463, H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm and MS Lebo

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12257

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    The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 407–414, FSM Hilbers, MPG Vreeswijk, CJ van Asperen and P Devilee

    Article first published online : 12 SEP 2013, DOI: 10.1111/cge.12256

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    The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Article first published online : 5 NOV 2013, DOI: 10.1111/cge.12298

  16. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Article first published online : 10 JUL 2014, DOI: 10.1111/cge.12436

  17. Incontinentia pigmenti diagnostic criteria update

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 536–542, S. Minić, D. Trpinac and M. Obradović

    Article first published online : 21 JUL 2013, DOI: 10.1111/cge.12223

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    Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 43–48, NM Tun, G Villani, K Ong, L Yoe and ZM Bo

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12270

  19. Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

    Clinical Genetics

    M Rigoldi, D Concolino, A Morrone, F Pieruzzi, R Ravaglia, F Furlan, F Santus, P Strisciuglio, G Torti and R Parini

    Article first published online : 20 SEP 2013, DOI: 10.1111/cge.12261

  20. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

    Clinical Genetics

    A Spreiz, E Haberlandt, M Baumann, S Baumgartner Sigl, C Fauth, K Gautsch, D Karall, C Janetschek, K Rostasy, S Scholl-Bürgi, S Zotter, G Utermann, J Zschocke and D Kotzot

    Article first published online : 28 OCT 2013, DOI: 10.1111/cge.12288