Clinical Genetics

Cover image for Clinical Genetics

December 1992

Volume 42, Issue 6

Pages 273–328

  1. Original Article

    1. Top of page
    2. Original Article
    3. Short Communication
    4. Letter to the Editor
    1. Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada (pages 273–280)

      J. C. Defesche, M. A. van de Ree, J. J. P. Kastelein, D. E. van Diermen, N. W. E. Janssans, J. J. van Doormaal and M. R. Hayden

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03256.x

    2. The Wolf-Hirschhorn syndrome in fetuses (pages 281–287)

      G. Tachdjian, G. Fondacci, S. Tapla, Y. Huten, P. Blot and C. Nessmann

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03257.x

    3. A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects (pages 288–295)

      Olaug K. Rødningen, Oddveig Røshy, Serena Tonstad, Leiv Ose, Kåre Berg and Trond P. Leren

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03258.x

    4. X-inactivation in girls with Rett syndrome (pages 296–301)

      M. H. Kormann-Bortolotto, C. G. Woods, S. H. Green and T. Webb

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03259.x

    5. Autosomal recessive gingival fibromatosis with distinctive facies (pages 306–308)

      Jack Goldblatt and Steven L. Singer

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03261.x

    6. Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families (pages 309–313)

      Gabriella Restagno, Simonetta Garnerone, Carla Gennaro, Marina Ferrone and Angelo Carbonara

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03262.x

    7. Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development (pages 314–316)

      J. P. Fryns, J. Delooz and H. van den Berghe

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03263.x

    8. Genotyping of spinal muscular atrophy families with linked DNA probes (pages 317–319)

      Massimo Gennarelli, Salvatore Melchionda, Cristina Fattorini, Giuseppe Novelli and Bruno Dallapiccola

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03264.x

    9. Choanal atresia in two unrelated patients with the Coffin-Siris syndrome (pages 320–322)

      G. de Jong and M. M. Nelson

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03265.x

  2. Short Communication

    1. Top of page
    2. Original Article
    3. Short Communication
    4. Letter to the Editor
  3. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Short Communication
    4. Letter to the Editor
    1. A Bedouin kindred with 19 piebalds in 5 generations (pages 326–328)

      Talaat I. Farag, Mahmmoud A. El-Ramly and Mohammed F. Sakr

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03267.x

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