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There are 7719 results for: content related to: Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype

  1. Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 708–718, V. Oikonomakis, K. Kosma, A. Mitrakos, C. Sofocleous, P. Pervanidou, A. Syrmou, A. Pampanos, S. Psoni, H. Fryssira, E. Kanavakis, S. Kitsiou-Tzeli and M. Tzetis

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12740

  2. Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Version of Record online : 6 AUG 2013, DOI: 10.1111/cge.12229

  3. 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

  4. 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

  5. The developmental genetics of Hirschsprung's disease

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 15–22, K-F Bergeron, DW Silversides and N Pilon

    Version of Record online : 7 NOV 2012, DOI: 10.1111/cge.12032

  6. Prenatal diagnosis of congenital myopathies and muscular dystrophies

    Clinical Genetics

    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

  7. Diagnosis and treatment of inherited thrombocytopenias

    Clinical Genetics

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

    Version of Record online : 20 MAY 2015, DOI: 10.1111/cge.12603

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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

  9. 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

    Version of Record online : 27 JUN 2013, DOI: 10.1111/cge.12173

  10. Aging in Rett syndrome: a longitudinal study

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 223–229, NSJ Halbach, EEJ Smeets, C Steinbusch, MA Maaskant, D van Waardenburg and LMG Curfs

    Version of Record online : 7 DEC 2012, DOI: 10.1111/cge.12063

  11. Application of chromosomal microarray in the evaluation of abnormal prenatal findings

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 47–54, SA Yatsenko, S Davis, NW Hendrix, U Surti, S Emery, T Canavan, P Speer, L Hill, M Clemens and A Rajkovic

    Version of Record online : 4 NOV 2012, DOI: 10.1111/cge.12027

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

    Clinical Genetics

    Y.-M. Sun, C. Lu and Z.-Y. Wu

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

  13. 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

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    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

    Version of Record online : 22 JUN 2015, DOI: 10.1111/cge.12613

  15. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  16. (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

  17. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 69–78, J. Park, D.-C. Jeong, J. Yoo, W. Jang, H. Chae, J. Kim, A. Kwon, H. Choi, J.W. Lee, N.-G. Chung, M. Kim and Y. Kim

    Version of Record online : 15 MAR 2016, DOI: 10.1111/cge.12749

  18. Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 320–327, T. Vinther-Jensen, T.T. Nielsen, E. Budtz-Jørgensen, I.U. Larsen, M.M. Hansen, L. Hasholt, L.E. Hjermind, J.E. Nielsen and A. Nørremølle

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12628

  19. 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

    Version of Record online : 4 JUN 2014, DOI: 10.1111/cge.12422

  20. 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

    Version of Record online : 23 MAR 2015, DOI: 10.1111/cge.12576