Clinical Genetics

Cover image for Clinical Genetics

April 2003

Volume 63, Issue 4

Pages 241–331

  1. Review Article

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

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

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

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

    1. Top of page
    2. Review Article
    3. Developmental Biology
    4. Hotspots
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death (pages 273–282)

      S Chen, L Zhang, RM Bryant, GM Vincent, M Flippin, JC Lee, E Brown, F Zimmerman, R Rozich, P Szafranski, C Oberti, R Sterba, D Marangi, PJ Tchou, MK Chung and Q Wang

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00048.x

    2. Genetic heterogeneity for a Nijmegen breakage-like syndrome (pages 283–290)

      P Maraschio, E Spadoni, C Tanzarella, A Antoccia, A Di Masi, M Maghnie, R Varon, I Demuth, L Tiepolo and C Danesino

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00054.x

  6. Short Reports

    1. Top of page
    2. Review Article
    3. Developmental Biology
    4. Hotspots
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK (pages 303–307)

      DC Blaydon, RF Mueller, TP Hutchin, BP Leroy, SS Bhattacharya, AC Bird, S Malcolm and M Bitner-Glindzicz

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00058.x

    2. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies (pages 308–313)

      MC Digilio, A Angioni, M De Santis, A Lombardo, A Giannotti, B Dallapiccola and B Marino

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00049.x

    3. Analysis of Sanfilippo A gene mutations in a large pedigree (pages 314–318)

      P Di Natale, GRD Villani, C Di Domenico, A Daniele, C Dionisi Vici and A Bartuli

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00053.x

  7. Letters to the Editor

    1. Top of page
    2. Review Article
    3. Developmental Biology
    4. Hotspots
    5. Images in Genetics
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    1. A submicroscopic deletion of 11p13 associated with the WAGR syndrome (pages 319–322)

      Guiomar Pérez de Nanclares, Francisco Martínez, Jose Ramon Bilbao, Aurora Navajas, Ricardo Martínez, Ma Asunción López-Arístegui and Luis Castaño

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00051.x

    2. Tangier disease with unusual clinical manifestations (pages 323–324)

      Genovefa D. Kolovou, David P. Wade, Ranjita Sengupta and Dennis V. Cokkinos

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00056.x

    3. Failure of prenatal diagnosis of diploid–triploid mosaicism after amniocentesis (pages 328–331)

      E Flori, B Doray, G Rudolf, R Favre, F Girard-Lemaire, C Schluth, I Zix-Kieffer, J Flori, M Loriot, E Schmitt and Y Rumpler

      Version of Record online: 22 APR 2003 | DOI: 10.1034/j.1399-0004.2003.00062.x

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