Clinical Genetics

Cover image for Clinical Genetics

February 2003

Volume 63, Issue 2

Pages 83–167

  1. Review Article

    1. Top of page
    2. Review Article
    3. HotSpots
    4. Images in Genetics
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Genetic epidemiology of amyotrophic lateral sclerosis (pages 83–101)

      D Majoor-Krakauer, PJ Willems and A Hofman

      Version of Record online: 10 MAR 2003 | DOI: 10.1046/j.0009-9163.2002.00001.x

  2. HotSpots

    1. Top of page
    2. Review Article
    3. HotSpots
    4. Images in Genetics
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
  3. Images in Genetics

    1. Top of page
    2. Review Article
    3. HotSpots
    4. Images in Genetics
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
  4. Original Article

    1. Top of page
    2. Review Article
    3. HotSpots
    4. Images in Genetics
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
  5. Short Reports

    1. Top of page
    2. Review Article
    3. HotSpots
    4. Images in Genetics
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle (pages 117–120)

      H Dollfus, C Stoetzel, S Riehm, W Lahlou Boukoffa, F Bediard Boulaneb, R Quillet, M Abu-Eid, C Speeg-Schatz, JJ Francfort, J Flament, F Veillon and F Perrin-Schmitt

      Version of Record online: 10 MAR 2003 | DOI: 10.1034/j.1399-0004.2003.00011.x

    2. Cystic fibrosis mutation frequencies in an Irish population (pages 121–125)

      J Devaney, M Glennon, G Farrell, M Ruttledge, T Smith, JA Houghton and M Maher

      Version of Record online: 10 MAR 2003 | DOI: 10.1034/j.1399-0004.2003.00017.x

    3. Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation (pages 126–130)

      I-J Kim, J-H Park, HC Kang, K-H Kim, J-H Kim, J-L Ku, S-B Kang, SY Park, J-S Lee and J-G Park

      Version of Record online: 10 MAR 2003 | DOI: 10.1034/j.1399-0004.2003.00008.x

    4. Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan's syndrome (pages 131–134)

      J Verbraecken, BP Paelinck, M Willemen, P Van de Heyning and W De Backer

      Version of Record online: 10 MAR 2003 | DOI: 10.1046/j.0009-9163.2002.00002.x

    5. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia (pages 135–138)

      K Al-Shali, J Wang, F Rosen and RA Hegele

      Version of Record online: 10 MAR 2003 | DOI: 10.1046/j.0009-9163.2002.00175.x

    6. Rapid detection methods for five HGO gene mutations causing alkaptonuria (pages 145–149)

      A Zatkova, A Chmelikova, H Polakova, E Ferakova and L Kadasi

      Version of Record online: 10 MAR 2003 | DOI: 10.1034/j.1399-0004.2003.00027.x

    7. USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele (pages 150–153)

      XM Ouyang, JF Hejtmancik, SG Jacobson, XJ Xia, A Li, LL Du, V Newton, M Kaiser, T Balkany, WE Nance and X-Z Liu

      Version of Record online: 10 MAR 2003 | DOI: 10.1046/j.0009-9163.2002.00004.x

  6. Letters to the Editor

    1. Top of page
    2. Review Article
    3. HotSpots
    4. Images in Genetics
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease (pages 160–162)

      M Sugimura, Y Kinouchi, S Takahashi, H Aihara, S Takagi, K Negoro, N Obana, Y Kojima, K Matsumoto, T Kikuchi, M Hiroki, S Oomori and T Shimosegawa

      Version of Record online: 10 MAR 2003 | DOI: 10.1046/j.0009-9163.2002.00174.x

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