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There are 8963 results for: content related to: Genetics of human cataract

  1. 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

    Article first published online : 23 JUL 2013, DOI: 10.1111/cge.12225

  2. Nomenclature for factors of the HLA system, update June 2013

    Tissue Antigens

    Volume 82, Issue 3, September 2013, Pages: 229–233, Steven G. E. Marsh and for the WHO Nomenclature Committee for Factors of the HLA System

    Article first published online : 19 AUG 2013, DOI: 10.1111/tan.12182

  3. You have free access to this content
    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

  4. 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

  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. 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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    Alternative splicing and retinal degeneration

    Clinical Genetics

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

    Article first published online : 5 JUN 2013, DOI: 10.1111/cge.12181

  8. Pharmacokinetics, pharmacodynamics and safety of empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, in subjects with renal impairment

    Diabetes, Obesity and Metabolism

    Volume 16, Issue 3, March 2014, Pages: 215–222, S. Macha, M. Mattheus, A. Halabi, S. Pinnetti, H. J. Woerle and U. C. Broedl

    Article first published online : 19 AUG 2013, DOI: 10.1111/dom.12182

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    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

    Article first published online : 19 JUN 2013, DOI: 10.1111/cge.12203

  10. A family with two female siblings with compound heterozygous FMR1 premutation alleles

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 458–463, K. Basuta, R. Lozano, A. Schneider, C.M. Yrigollen, D. Hessl, R.J. Hagerman and F. Tassone

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12218

  11. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12188

  12. 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

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12227

  13. Pelagic to demersal transition in a coral-reef fish, the orbicular batfish Platax orbicularis

    Journal of Fish Biology

    Volume 83, Issue 3, September 2013, Pages: 466–479, J. M. Leis, A. C. Hay, P. Sasal, A. S. Hicks and R. Galzin

    Article first published online : 22 AUG 2013, DOI: 10.1111/jfb.12182

  14. Hard palate hyperpigmentation secondary to chronic chloroquine therapy: report of five cases

    Journal of Cutaneous Pathology

    Volume 40, Issue 9, September 2013, Pages: 833–838, Bruno Augusto Benevenuto de Andrade, Felipe Paiva Fonseca, Fábio Ramôa Pires, Ana Terezinha Marques Mesquita, Saulo Gabriel Moreira Falci, Alan Roger dos Santos Silva, Pablo Agustin Vargas, Jacks Jorge and Oslei Paes de Almeida

    Article first published online : 19 JUN 2013, DOI: 10.1111/cup.12182

  15. 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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    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

  17. Sensitivity of Phakopsora pachyrhizi towards quinone-outside-inhibitors and demethylation-inhibitors, and corresponding resistance mechanisms

    Pest Management Science

    Volume 70, Issue 3, March 2014, Pages: 378–388, Helena K Schmitz, Carlos-Antonio Medeiros, Ian R Craig and Gerd Stammler

    Article first published online : 9 JUL 2013, DOI: 10.1002/ps.3562

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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

  19. 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

  20. Efficacy and safety of empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, as add-on to metformin in type 2 diabetes with mild hyperglycaemia

    Diabetes, Obesity and Metabolism

    Volume 15, Issue 12, December 2013, Pages: 1154–1160, J. Rosenstock, L. J. Seman, A. Jelaska, S. Hantel, S. Pinnetti, T. Hach and H. J. Woerle

    Article first published online : 22 AUG 2013, DOI: 10.1111/dom.12185