Clinical Genetics

Cover image for Vol. 78 Issue 1

July 2010

Volume 78, Issue 1

Pages 1–101

  1. Review

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
  2. Editorial

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
  3. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
    1. Chromodomain proteins in development: lessons from CHARGE syndrome (pages 11–20)

      WS Layman, EA Hurd and DM Martin

      Version of Record online: 8 APR 2010 | DOI: 10.1111/j.1399-0004.2010.01446.x

  4. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
    1. Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools (pages 21–31)

      L Ioannou, J Massie, S Lewis, V Petrou, A Gason, S Metcalfe, MA Aitken, A Bankier and MB Delatycki

      Version of Record online: 7 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01459.x

  5. HotSpots

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
  6. Original Article

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
    1. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome (pages 38–46)

      W Chonchaiya, DV Nguyen, J Au, L Campos, EM Berry-Kravis, K Lohse, Y Mu, A Utari, C Hervey, L Wang, P Sorensen, K Cook, L Gane, F Tassone and RJ Hagerman

      Version of Record online: 14 APR 2010 | DOI: 10.1111/j.1399-0004.2010.01448.x

  7. Short Reports

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
    1. Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63 (pages 47–56)

      E Waanders, H Venselaar, RHM Te Morsche, DB De Koning, PS Kamath, VE Torres, S Somlo and JPH Drenth

      Version of Record online: 20 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01353.x

    2. Safety and cardiovascular behavior during pulmonary function in patients with Marfan syndrome (pages 57–65)

      GFB Cipriano, PAT Peres, G Cipriano Jr, R Arena and AC Carvalho

      Version of Record online: 29 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01367.x

    3. Two missense mutations in SLC26A4 gene: a molecular and functional study (pages 74–80)

      I Ben Rebeh, N Yoshimi, H Hadj-Kacem, S Yanohco, B Hammami, M Mnif, M Araki, A Ghorbel, H Ayadi, S Masmoudi and H Miyazaki

      Version of Record online: 2 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01360.x

    4. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene (pages 81–87)

      D Brožková, R Mazanec, J Haberlová, I Sakmaryová and P Seeman

      Version of Record online: 20 APR 2010 | DOI: 10.1111/j.1399-0004.2010.01423.x

    5. Holocarboxylase synthetase deficiency: novel clinical and molecular findings (pages 88–93)

      R Tammachote, S Janklat, S Tongkobpetch, K Suphapeetiporn and V Shotelersuk

      Version of Record online: 2 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01357.x

  8. Letters to the Editor

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
    1. A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation (pages 94–97)

      A Jamsheer, M Badura-Stronka, A Sowińska, S Dębicki, K Kiryluk and A Latos-Bieleńska

      Version of Record online: 7 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01412.x

    2. Genetics of glucose-6-phosphate dehydrogenase deficiency in Saudi patients (pages 98–100)

      M Faiyaz-Ul-Haque, SHE Zaidi, RM Hasanato, A Al-Abdullatif, A Cluntun, G Teresita, M Toulimat, R Al-Nounou, F Al-Dayel, I Peltekova and JAKM Bhuiyan

      Version of Record online: 4 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01377.x

  9. Erratum

    1. Top of page
    2. Review
    3. Editorial
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Social and Behavioural Research in Clinical Genetics
    6. HotSpots
    7. Original Article
    8. Short Reports
    9. Letters to the Editor
    10. Erratum
    1. You have free access to this content
      Erratum (page 101)

      Version of Record online: 7 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01467.x

      This article corrects:

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