Clinical Genetics

Cover image for Clinical Genetics

December 2004

Volume 66, Issue 6

Pages 483–577

  1. Index

    1. Top of page
    2. Index
    3. Mini Reviews
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. Subject index

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2004.00385.x

    2. Author index

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2004.00383.x

  2. Mini Reviews

    1. Top of page
    2. Index
    3. Mini Reviews
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. Microarray-based comparative genomic hybridization and its applications in human genetics (pages 488–495)

      AE Oostlander, GA Meijer and B Ylstra

      Version of Record online: 16 AUG 2004 | DOI: 10.1111/j.1399-0004.2004.00322.x

  3. Original Articles

    1. Top of page
    2. Index
    3. Mini Reviews
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease (pages 496–501)

      A Shatunov, EA Fridman, FI Pagan, J Leib, A Singleton, M Hallett and LG Goldfarb

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00356.x

    2. Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer (pages 502–511)

      B Meiser, V Collins, R Warren, C Gaff, DJB St John, M-A Young, K Harrop, J Brown and J Halliday

      Version of Record online: 1 NOV 2004 | DOI: 10.1111/j.1399-0004.2004.00339.x

  4. Short Reports

    1. Top of page
    2. Index
    3. Mini Reviews
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome (pages 517–524)

      E Ciara, MJM Nowaczyk, M Witsch-Baumgartner, E Malunowicz, E Popowska, A Jezela-Stanek, M Piotrowicz, JS Waye, G Utermann and M Krajewska-Walasek

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00350.x

    2. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability (pages 525–529)

      E Aller, T Jaijo, S Oltra, J Alió, F Galán, C Nájera, M Beneyto and JM Millán

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00352.x

    3. Autism in Angelman syndrome: implications for autism research (pages 530–536)

      SU Peters, AL Beaudet, N Madduri and CA Bacino

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00362.x

    4. Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype (pages 537–544)

      AE Shrimpton, BR Braddock, LL Thomson, CK Stein and JJ Hoo

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00363.x

    5. Chondrodysplasia punctata in siblings and maternal lupus erythematosus (pages 545–549)

      K Kozlowski, D Basel and P Beighton

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00364.x

    6. Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) – report of a second family (pages 550–555)

      M Tischkowitz, F Goodman, M Koliou, D Webster, P Edery, A Jones and LC Wilson

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00349.x

    7. Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia (pages 556–561)

      K Brusgaard, AD Kjeldsen, L Poulsen, H Moss, P Vase, K Rasmussen, TA Kruse and M Hørder

      Version of Record online: 21 SEP 2004 | DOI: 10.1111/j.1399-0004.2004.00341.x

  5. Letters to the Editor

    1. Top of page
    2. Index
    3. Mini Reviews
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. ‘It's (not) only teeth’ (page 565)

      PJM Crawford, MJ Aldred, R Savarirayan and J Savulescu

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00355.x

    2. PMS2 mutations in HNPCC (pages 566–567)

      BE Hayward, M De Vos, E Sheridan and DT Bonthron

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00366.x

    3. Response to De Vos et al. (page 568)

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00367.x

    4. Allelic heterogeneity of Crigler–Najjar type I syndrome: a study of 24 cases (pages 571–572)

      FM Petit, V Gajdos, J Francoual, L Capel, F Parisot, C Poüs and P Labrune

      Version of Record online: 20 OCT 2004 | DOI: 10.1111/j.1399-0004.2004.00371.x

  6. Erratum

    1. Top of page
    2. Index
    3. Mini Reviews
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. You have free access to this content
      Erratum (page 577)

      Version of Record online: 1 NOV 2004 | DOI: 10.1111/j.1399-0004.2004.00384.x

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