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There are 1480 results for: content related to: Aminoacylase I deficiency due to ACY1 mRNA exon skipping

  1. You have free access to this content
    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

  2. You have full text access to this OnlineOpen article
    Help or hindrance: young people's experiences of predictive testing for Huntington's disease

    Clinical Genetics

    K. Forrest Keenan, L. McKee and Z. Miedzybrodzka

    Article first published online : 26 JUL 2014, DOI: 10.1111/cge.12439

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    Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 417–422, T. Rigter, C.J.A. van Aart, M.W. Elting, Q. Waisfisz, M.C. Cornel and L. Henneman

    Article first published online : 4 NOV 2013, DOI: 10.1111/cge.12299

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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

  5. 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

  6. 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

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    Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

    Clinical Genetics

    D. Cragun, C. Radford, J.S. Dolinsky, M. Caldwell, E. Chao and T. Pal

    Article first published online : 20 MAR 2014, DOI: 10.1111/cge.12359

  8. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

    Clinical Genetics

    J.A. Anderson, R.Z. Hayeems, C. Shuman, M.J. Szego, N. Monfared, S. Bowdin, R. Zlotnik Shaul and M.S. Meyn

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12460

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    Funding considerations for the disclosure of genetic incidental findings in biobank research

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 397–406, L Black, D Avard, MH Zawati, BM Knoppers, J Hébert, G Sauvageau and on behalf of the Leucegene Project

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12190

  10. 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

  11. Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype

    Clinical Genetics

    S. Costantini, G. Malerba, G. Contreas, M. Corradi, S.P. Marin Vargas, A. Giorgetti and C. Maffeis

    Article first published online : 6 JUN 2014, DOI: 10.1111/cge.12406

  12. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Article first published online : 6 AUG 2014, DOI: 10.1111/cge.12437

  13. Communication and technology in genetic counseling for familial cancer

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 213–222, H.T. Lynch, C. Snyder, M. Stacey, B. Olson, S.K. Peterson, S. Buxbaum, T. Shaw and P.M. Lynch

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12317

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    Personalized ophthalmology

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 1–11, L.F. Porter and G.C.M. Black

    Article first published online : 3 JUN 2014, DOI: 10.1111/cge.12389

  15. Genotype phenotype correlations for hearing impairment: Approaches to management

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 514–523, L. H. Hoefsloot, I. Feenstra, H. P. M. Kunst and H. Kremer

    Article first published online : 18 FEB 2014, DOI: 10.1111/cge.12339

  16. 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

  17. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

    Clinical Genetics

    J.-J. Braun, V. Noblet, M. Durand, S. Scheidecker, A. Zinetti-Bertschy, J. Foucher, V. Marion, J. Muller, S. Riehm, H. Dollfus and S. Kremer

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12391

  18. 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

  19. A ‘cure’ for Down syndrome: what do parents want?

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 310–317, A. Inglis, Z. Lohn, J. C. Austin and C. Hippman

    Article first published online : 21 MAR 2014, DOI: 10.1111/cge.12364

  20. Cross-border reprogenetic services: a narrative overview and thematic analysis of the literature

    Clinical Genetics

    V. Couture, R. Drouin, S.-L. Tan, J.-M. Moutquin and C. Bouffard

    Article first published online : 6 JUN 2014, DOI: 10.1111/cge.12418