Clinical Genetics

Cover image for Vol. 85 Issue 4

April 2014

Volume 85, Issue 4

Pages 303–402

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. The future in clinical genetics: affective forecasting biases in patient and clinician decision making (pages 312–317)

      S.A. Peters, S.M. Laham, N. Pachter and I.M. Winship

      Article first published online: 11 SEP 2013 | DOI: 10.1111/cge.12255

      Section Editor:

      Aad Tibben, email: a.tibben@lumc.nl

  3. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands (pages 318–327)

      R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

      Article first published online: 25 JUN 2013 | DOI: 10.1111/cge.12187

    2. Cutaneous clues for diagnosing X-chromosomal disorders (pages 328–335)

      M. Vreeburg, S.C.E.H. Sallevelt, A.P.A. Stegmann, M. van Geel, Y.J.H.A. Detisch, C.T.R.M. Schrander-Stumpel, M.A.M. van Steensel and D. Marcus-Soekarman

      Article first published online: 14 AUG 2013 | DOI: 10.1111/cge.12162

  4. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox (pages 347–353)

      C. Evers, M.S. Jungwirth, J. Morgenthaler, K. Hinderhofer, B. Maas, J.W.G. Janssen, A. Jauch, U. Hehr, H. Steinbeisser and U. Moog

      Article first published online: 27 MAY 2013 | DOI: 10.1111/cge.12171

    2. Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT (pages 359–364)

      E.E. Davis, J.H. Savage, J.R. Willer, Y.-H. Jiang, M. Angrist, A. Androutsopoulos and N. Katsanis

      Article first published online: 5 JUN 2013 | DOI: 10.1111/cge.12189

    3. Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders (pages 365–370)

      S. Fokstuen, P. Makrythanasis, S. Nikolaev, F. Santoni, D. Robyr, A. Munoz, J. Bevillard, L. Farinelli, C. Iseli, S.E. Antonarakis and J.-L. Blouin

      Article first published online: 13 MAY 2013 | DOI: 10.1111/cge.12168

    4. NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility (pages 371–375)

      A.M. Alazami, M.J. Alshammari, M. Baig, M.A. Salih, H.H. Hassan and F.S. Alkuraya

      Article first published online: 26 APR 2013 | DOI: 10.1111/cge.12160

    5. ‘Deletion rescue’ by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome (pages 376–380)

      J.P. Johnson, M. Haag, L. Beischel, C. McCann, S. Phillips, M. Tunby, J. Hansen, C. Schwanke and J.F. Reynolds

      Article first published online: 27 MAY 2013 | DOI: 10.1111/cge.12164

    6. Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies (pages 381–385)

      J.J. van der Smagt, A. Vink, J.H. Kirkels, M. Nelen, H. ter Heide, M.M.C. Molenschot, R.A. Weger, P.A.W. Schellekens, J. Hoogendijk and D. Dooijes

      Article first published online: 13 MAY 2013 | DOI: 10.1111/cge.12169

  5. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia (pages 393–395)

      S. Donkervoort, J. Dastgir, Y. Hu, W.M. Zein, H. Marks, C. Blackstone and C.G. Bönnemann

      Article first published online: 10 JUN 2013 | DOI: 10.1111/cge.12185

    2. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH (pages 396–398)

      K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

      Article first published online: 9 JUN 2013 | DOI: 10.1111/cge.12188

    3. Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation (pages 401–402)

      C. Amiñoso, S. García-Miñaúr, L. Martínez, J.A. Tenorio, J.A. Tovar, P. Lapunzina and J. Solera

      Article first published online: 13 MAY 2013 | DOI: 10.1111/cge.12163

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