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There are 1205 results for: content related to: Carrier frequency of two BBS2 mutations in the Ashkenazi population

  1. 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

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

    Clinical Genetics

    G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

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

  3. Cornelia de Lange syndrome

    Clinical Genetics

    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

  4. You have full text access to this OnlineOpen article
    Strabismus genetics across a spectrum of eye misalignment disorders

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 103–111, X.C. Ye, V. Pegado, M.S. Patel and W.W. Wasserman

    Article first published online : 26 MAR 2014, DOI: 10.1111/cge.12367

  5. 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

  6. Epigenetic mechanisms in the pathogenesis of Lynch syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 403–412, P. Peltomäki

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12349

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    Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 326–334, KJ Jacob, WP Robinson and L Lefebvre

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12143

  8. The genetics of type 2 diabetes and its clinical relevance

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 297–306, A Pal and MI McCarthy

    Article first published online : 4 DEC 2012, DOI: 10.1111/cge.12055

  9. Genetics of human isolated hereditary hair loss disorders

    Clinical Genetics

    S. Basit, S. Khan and W. Ahmad

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12531

  10. Detecting somatic mosaicism: considerations and clinical implications

    Clinical Genetics

    A.S.A. Cohen, S.L. Wilson, J. Trinh and X.C. Ye

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12502

  11. Living laboratory: whole-genome sequencing as a learning healthcare enterprise

    Clinical Genetics

    M. Angrist and L. Jamal

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

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

    Clinical Genetics

    M. Schneider, K. Chandler, M. Tischkowitz and S. Meyer

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

  13. mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

    Clinical Genetics

    J. Steffann, S. Monnot and J.-P. Bonnefont

    Article first published online : 3 FEB 2015, DOI: 10.1111/cge.12557

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    Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 11–20, J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Article first published online : 10 JUL 2014, DOI: 10.1111/cge.12436

  15. 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

  16. 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

  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

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

  18. Genetics of sudden cardiac death in the young

    Clinical Genetics

    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

  19. 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

  20. The kidney in Fabry's disease

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 301–309, A. Pisani, B. Visciano, M. Imbriaco, A. Di Nuzzi, A. Mancini, C. Marchetiello and E. Riccio

    Article first published online : 30 MAY 2014, DOI: 10.1111/cge.12386