Clinical Genetics

Cover image for Clinical Genetics

June 2002

Volume 61, Issue 6

Pages 393–472

  1. Review Article

    1. Top of page
    2. Review Article
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. Inherited disorders of cholesterol biosynthesis (pages 393–403)

      HR Waterham

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610601.x

  2. Images in Genetics

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

    1. Top of page
    2. Review Article
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia (pages 408–415)

      JU Brorholt-Petersen, HK Jensen, JM Jensen, J Refsgaard, T Christiansen, LB Hansen, N Gregersen and O Faergeman

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610603.x

    2. Type III hyperlipoproteinema with apolipoprotein E2/2 genotype in Japan (pages 416–422)

      M Eto, M Saito, H Nakata, Y Iwashima, K Watanabe, A Ikoda and K Kaku

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610604.x

    3. Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease (pages 423–429)

      C Heltianu, G Costache, K Azibi, L Poenaru and M Simionescu

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610605.x

  4. Short Reports

    1. Top of page
    2. Review Article
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. Effects of apolipoprotein A-IV genotype on glucose and plasma lipoprotein levels (pages 430–436)

      IA Larson, JM Ordovas, Z Sun JR, Barnard, J Lohrmann, G Feussner, S Lamon-Fava and EJ Schaefer

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610606.x

    2. Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis (pages 437–442)

      ME Alonso, P Yescas, A Rasmussen, A. Ochoa, R Macías, I Ruiz and R Suástegui

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610607.x

    3. An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease (pages 443–447)

      R Biancheri, E Verbeek, A Rossi, R Gaggero, L Roccatagliata, R Gatti, Op Van Diggelen, FW Verheijen and GMS Mancini

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610608.x

    4. Facial clefting in an Arab town in Israel (pages 448–453)

      L Jaber, A Nahmani, GJ Halpern and M Shohat

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610609.x

    5. Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome) (pages 454–458)

      M Faiyaz-Ul-Haque, W Ahmad, SHE Zaidi, S Haque, AS Teebi, M Ahmad, DH Cohn and L-C Tsui

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610610.x

    6. Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss (pages 459–464)

      L Bason, T Dudley, K Lewis, U Shah, W Potsic, A Ferraris, P Fortina, E Rappaport and ID Krantz

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610611.x

  5. Letters to the Editor

    1. Top of page
    2. Review Article
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion (pages 465–467)

      C Bruno, P Gandullia, FM Santorelli, C Biedi, I Carbone, M Bado, R Gatti and C Minetti

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610612.x

    2. Esophageal and duodenal atresia in a girl with a 12q24.3-qter deletion (pages 468–471)

      B Doray, F Becmeur, F Girard-Lemaire, C Schluth and E Flori

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610613.x

  6. Erratum

    1. Top of page
    2. Review Article
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Erratum
    1. You have free access to this content
      Erratum (page 472)

      Version of Record online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610614.x

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