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There are 1109 results for: content related to: Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia

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

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 3–15, S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12737

  2. Prenatal diagnosis of congenital myopathies and muscular dystrophies

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 199–210, D. Massalska, J.G. Zimowski, J. Bijok, A. Kucińska-Chahwan, A. Łusakowska, G. Jakiel and T. Roszkowski

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12801

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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

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

  4. Spinocerebellar ataxia: relationship between phenotype and genotype – a review

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 305–314, Y.-M. Sun, C. Lu and Z.-Y. Wu

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12808

  5. 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

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12631

  6. (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

    Version of Record online : 30 JUL 2015, DOI: 10.1111/cge.12635

  7. 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

    Version of Record online : 4 MAY 2015, DOI: 10.1111/cge.12598

  8. 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

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12529

  9. Epigenetic changes in diabetes

    Clinical Genetics

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

    Version of Record online : 11 MAR 2013, DOI: 10.1111/cge.12121

  10. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 659–668, C. Mouden, C. Dubourg, W. Carré, S. Rose, C. Quelin, L. Akloul, H. Hamdi-Rozé, G. Viot, H. Salhi, P. Darnault, S. Odent, V. Dupé and V. David

    Version of Record online : 16 FEB 2016, DOI: 10.1111/cge.12722

  11. 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

    Version of Record online : 14 JUL 2015, DOI: 10.1111/cge.12630

  12. 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

    Version of Record online : 13 AUG 2015, DOI: 10.1111/cge.12641

  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

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12517

  14. 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

    Version of Record online : 12 MAR 2013, DOI: 10.1111/cge.12117

  15. 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

    Version of Record online : 27 NOV 2012, DOI: 10.1111/cge.12054

  16. 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

    Version of Record online : 1 MAY 2015, DOI: 10.1111/cge.12596

  17. 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

    Version of Record online : 25 SEP 2014, DOI: 10.1111/cge.12493

  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

    Version of Record 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

    Version of Record 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

    Version of Record online : 9 MAY 2014, DOI: 10.1111/cge.12393