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There are 1805 results for: content related to: Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

  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. 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

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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

  4. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 416–425, 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

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

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

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

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    Clinical implementation of NIPT – technical and biological challenges

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 523–530, 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

  7. 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

  8. 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

  9. Unmasking Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 201–211, N Bögershausen and B Wollnik

    Article first published online : 26 NOV 2012, DOI: 10.1111/cge.12051

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

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 285–294, K. Rai, R. Pilarski, C.M. Cebulla and M.H. Abdel-Rahman

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

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

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 295–303, 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. Living laboratory: whole-genome sequencing as a learning healthcare enterprise

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 311–318, M. Angrist and L. Jamal

    Article first published online : 5 SEP 2014, DOI: 10.1111/cge.12461

  13. 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

  14. Building a brain in the gut: development of the enteric nervous system

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 307–316, AM Goldstein, RMW Hofstra and AJ Burns

    Article first published online : 27 NOV 2012, DOI: 10.1111/cge.12054

  15. 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

  16. Genetic regulation of vertebrate eye development

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 453–460, J.L. Zagozewski, Q. Zhang and D.D. Eisenstat

    Article first published online : 25 SEP 2014, DOI: 10.1111/cge.12493

  17. Diagnosis and treatment of inherited thrombocytopenias

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 141–153, A. Pecci

    Article first published online : 20 MAY 2015, DOI: 10.1111/cge.12603

  18. Role of the Nrf2 signaling system in health and disease

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 447–452, B. M. Hybertson and B. Gao

    Article first published online : 16 SEP 2014, DOI: 10.1111/cge.12474

  19. 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

  20. Charcot–Marie–Tooth disease and pathways to molecular based therapies

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 422–431, T. Harel and J.R. Lupski

    Article first published online : 9 MAY 2014, DOI: 10.1111/cge.12393