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There are 23738 results for: content related to: Making headway with genetic diagnostics of intellectual disabilities

  1. 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

    Version of Record online : 17 SEP 2013, DOI: 10.1111/cge.12241

  2. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Version of Record online : 23 JUL 2013, DOI: 10.1111/cge.12225

  3. 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

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  4. 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

    Version of Record online : 30 JUL 2013, DOI: 10.1111/cge.12230

  5. You have free access to this content
    Genes and mutations causing retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 132–141, S P Daiger, L S Sullivan and S J Bowne

    Version of Record online : 19 JUN 2013, DOI: 10.1111/cge.12203

  6. Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

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

    Version of Record online : 6 AUG 2013, DOI: 10.1111/cge.12229

  7. 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

    Version of Record online : 25 JUN 2013, DOI: 10.1111/cge.12187

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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

    Version of Record online : 9 JUN 2013, DOI: 10.1111/cge.12182

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    Alternative splicing and retinal degeneration

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 142–149, M M Liu and D J Zack

    Version of Record online : 5 JUN 2013, DOI: 10.1111/cge.12181

  10. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 482–486, S. Malik, S. Ullah, M. Afzal, K. Lal and S. Haque

    Version of Record online : 5 JUL 2013, DOI: 10.1111/cge.12217

  11. 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

    Version of Record online : 24 JUN 2013, DOI: 10.1111/cge.12201

  12. Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 91–95, M.D. Ramos, D. Trujillano, R. Olivar, F. Sotillo, S. Ossowski, J. Manzanares, J. Costa, S. Gartner, C. Oliva, E. Quintana, M.I. Gonzalez, C. Vazquez, X. Estivill and T. Casals

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12234

  13. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 555–561, F.V. Ventura, P. Leandro, A. Luz, I.A. Rivera, M.F.B. Silva, R. Ramos, H. Rocha, A. Lopes, H. Fonseca, A. Gaspar, L. Diogo, E. Martins, E. Leão-Teles, L. Vilarinho and I. Tavares de Almeida

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12227

  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

    Version of Record online : 18 JUL 2013, DOI: 10.1111/cge.12224

  15. 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

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12190

  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

    Version of Record online : 9 JUL 2013, DOI: 10.1111/cge.12206

  17. Latino Fathers' Involvement in Their Children's Schools

    Family Relations

    Volume 62, Issue 4, October 2013, Pages: 662–675, Veronica Terriquez

    Version of Record online : 24 AUG 2013, DOI: 10.1111/fare.12026

  18. 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

    Version of Record online : 17 JUN 2013, DOI: 10.1111/cge.12194

  19. 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

    Version of Record online : 12 JUN 2013, DOI: 10.1111/cge.12198

  20. “You Need to Stop Talking About This!”: Verbal Rumination and the Costs of Social Support

    Human Communication Research

    Volume 39, Issue 4, October 2013, Pages: 395–421, Tamara Afifi, Walid Afifi, Anne F. Merrill, Amanda Denes and Sharde Davis

    Version of Record online : 18 JUN 2013, DOI: 10.1111/hcre.12012