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There are 4273 results for: content related to: OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

  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

  2. You have free access to this content
    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  3. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Article first published online : 17 JUL 2015, DOI: 10.1111/cge.12631

  4. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Article first published online : 30 JUL 2015, DOI: 10.1111/cge.12635

  5. Clinical implementation of NIPT – technical and biological challenges

    Clinical Genetics

    P. Brady, N. Brison, K. Van Den Bogaert, T. de Ravel, H. Peeters, H. Van Esch, K. Devriendt, E. Legius and J.R. Vermeesch

    Article first published online : 4 MAY 2015, DOI: 10.1111/cge.12598

  6. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12529

  7. Cornelia de Lange syndrome

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 1–12, M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

  8. 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

  9. Epigenetic changes in diabetes

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 1–10, ST Keating and A El-Osta

    Article first published online : 11 MAR 2013, DOI: 10.1111/cge.12121

  10. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

    Clinical Genetics

    K. Rai, R. Pilarski, C.M. Cebulla and M.H. Abdel-Rahman

    Article first published online : 14 JUL 2015, DOI: 10.1111/cge.12630

  11. Genetic aspects of Huntington's disease in Latin America. A systematic review

    Clinical Genetics

    R.M. Castilhos, M.C. Augustin, J.A. Santos, C. Perandones, M.L. Saraiva-Pereira, L.B. Jardim and on Behalf of Rede Neurogenética

    Article first published online : 13 AUG 2015, DOI: 10.1111/cge.12641

  12. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 13–24, M. Schneider, K. Chandler, M. Tischkowitz and S. Meyer

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12517

  13. Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 408–416, M Sabatelli, A Conte and M Zollino

    Article first published online : 12 MAR 2013, DOI: 10.1111/cge.12117

  14. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

  15. A review of craniofacial disorders caused by spliceosomal defects

    Clinical Genetics

    D. Lehalle, D. Wieczorek, R.M. Zechi-Ceide, M.R. Passos-Bueno, S. Lyonnet, J. Amiel and C.T. Gordon

    Article first published online : 1 MAY 2015, DOI: 10.1111/cge.12596

  16. Genetics of sudden cardiac death in the young

    Clinical Genetics

    Volume 88, Issue 2, August 2015, Pages: 101–113, J.B. Saenen, E.M. Van Craenenbroeck, D. Proost, F. Marchau, L. Van Laer, C.J. Vrints and B.L. Loeys

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12519

  17. You have free access to this content
    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  18. 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

  19. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  20. 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