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There are 8717 results for: content related to: Providing comprehensive genetic-based ophthalmic care

  1. You have free access to this content
    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

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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

  3. You have full text access to this OnlineOpen article
    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

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    Genetics of human cataract

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 120–127, A Shiels and J F Hejtmancik

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12182

  5. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

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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

  7. Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 441–445, J.-H. Jang, K. Lee, E.-H. Cho, E.-H. Lee, J.-W. Kim and C.-S. Ki

    Article first published online : 13 JUN 2013, DOI: 10.1111/cge.12195

  8. Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 446–451, C. Baquero-Montoya, M.C. Gil-Rodríguez, M.E. Teresa-Rodrigo, M. Hernández-Marcos, G. Bueno-Lozano, I. Bueno-Martínez, S. Remeseiro, R. Fernández-Hernández, M. Bassecourt-Serra, M. Rodríguez de Alba, E. Queralt, A. Losada, B. Puisac, F.J. Ramos and J. Pié

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12194

  9. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 476–481, E. Schaefer, J. Lauer, M. Durand, V. Pelletier, C. Obringer, A. Claussmann, J.-J. Braun, C. Redin, C. Mathis, J. Muller, C. Schmidt-Mutter, E. Flori, V. Marion, C. Stoetzel and H. Dollfus

    Article first published online : 12 JUN 2013, DOI: 10.1111/cge.12198

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    Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 423–432, E.I. Ramos, G.A. Bien-Willner, J. Li, A.E.O. Hughes, J. Giacalone, S. Chasnoff, S. Kulkarni, M. Parmacek, F.S. Cole and T.E. Druley

    Article first published online : 18 JUN 2013, DOI: 10.1111/cge.12197

  11. 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

  12. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 583–588, A.J. Brea-Fernández, J.M. Cameselle-Teijeiro, C. Alenda, C. Fernández-Rozadilla, J. Cubiella, J. Clofent, J.M. Reñé, U. Anido, M. Milá, F. Balaguer, A. Castells, S. Castellvi-Bel, R. Jover, A. Carracedo and C. Ruiz-Ponte

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12232

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    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 415–421, JY Hehir-Kwa, R Pfundt, JA Veltman and N de Leeuw

    Article first published online : 21 AUG 2013, DOI: 10.1111/cge.12242

  14. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 562–567, S. Shaaban, F. Duzcan, C. Yildirim, W.-M. Chan, C. Andrews, N.A. Akarsu and E.C. Engle

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12224

  15. LQTS in Northern BC: homozygosity for KCNQ1V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 85–90, H.A. Jackson, S. McIntosh, B. Whittome, S. Asuri, B. Casey, C. Kerr, A. Tang and L.T. Arbour

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12235

  16. You have full text access to this OnlineOpen article
    Age-related macular degeneration—clinical review and genetics update

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 160–166, R Ratnapriya and E Y Chew

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12206

  17. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Article first published online : 25 JUN 2013, DOI: 10.1111/cge.12187

  18. 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

  19. 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

  20. 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