Clinical Genetics

Cover image for Clinical Genetics

August 2003

Volume 64, Issue 2

Pages 83–177

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Syndromes of disordered chromatin remodeling (pages 83–95)

      J Ausió, DB Levin, GV De Amorim, S Bakker and PM Macleod

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00124.x

  2. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
  3. HotSpots

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
  4. Original Articles

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy (pages 111–121)

      Cl Scott, DG Iorgulescu, HJ Thorne, MA Henderson, KA Phillips and Kathleen Cuningham Foundation Consortium for Familial Breast Cancer (kConFab)

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00097.x

  5. Short Reports

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications (pages 137–141)

      G Rebello, A Vorster, J Greenberg, N Coutts, L Roberts, L Ehrenreich, D Gama and R Ramesar

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00090.x

    2. Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency (pages 142–147)

      R Paracchini, M Giordano, A Corrias, S Mellone, P Matarazzo, J Bellone, P Momigliano-Richiardi and G Bona

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00106.x

    3. X-linked myotubular myopathy in a family with three adult survivors (pages 148–152)

      S Yu, J Manson, S White, A Bourne, H Waddy, M Davis and E Haan

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00118.x

    4. Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families (pages 153–159)

      J Carmona, JA Burguera, B Mollà, F Mulas, P Smeyers, F Carratalà, JG De Yebenes, J Hoenicka and F Palau

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00084.x

  6. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient (pages 163–165)

      A. I Al Aqeel, M. S Rashid, J. Pn Ruiter, L. Ijlst and R. Ja Wanders

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00117.x

    2. Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA heteromorphism (pages 166–167)

      T. Liehr, M. Ziegler, H. Starke, A. Heller, A. Kuechler, G. Kittner, V. Beensen, J. Seidel, H. Häßler, J. Müsebeck and U. Claussen

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00114.x

    3. Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family (pages 172–175)

      I. Schwartz, L. R. Silva, S. Leistner, L. A. Todeschini, M. G. Burin, J. M. Pina-Neto, R. M. Islam, G. N. Shah, W. S. Sly and R. Giugliani

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00119.x

  7. Erratum

    1. Top of page
    2. Mini Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Erratum
    1. Erratum (pages 176–177)

      Article first published online: 10 JUL 2003 | DOI: 10.1034/j.1399-0004.2003.00141.x

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