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There are 2351 results for: content related to: Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

  1. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Article first published online : 9 FEB 2016, DOI: 10.1111/cge.12737

  2. 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

  3. (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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. A review of craniofacial disorders caused by spliceosomal defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 405–415, 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

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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

  13. 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

  14. 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

  15. You have free access to this content
    X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 44–54, L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12613

  16. Systematic review of the psychosocial aspects of living with Marfan syndrome

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 109–116, G. Velvin, T. Bathen, S. Rand-Hendriksen and A.Ø. Geirdal

    Article first published online : 4 JUN 2014, DOI: 10.1111/cge.12422

  17. Gene therapy for primary immunodeficiencies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 507–515, A. Fischer, S. Hacein-Bey Abina, F. Touzot and M. Cavazzana

    Article first published online : 23 MAR 2015, DOI: 10.1111/cge.12576

  18. You have full text access to this OnlineOpen article
    The emerging era of pharmacogenomics: current successes, future potential, and challenges

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 21–28, J.W. Lee, F. Aminkeng, A.P. Bhavsar, K. Shaw, B.C. Carleton, M.R. Hayden and C.J.D. Ross

    Article first published online : 9 MAY 2014, DOI: 10.1111/cge.12392

  19. 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

  20. You have full text access to this OnlineOpen article
    Clinical application of genetics to guide prevention and treatment of oral diseases

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 44–49, K.S. Kornman and P.J. Polverini

    Article first published online : 10 MAY 2014, DOI: 10.1111/cge.12396