Clinical Genetics

Cover image for Clinical Genetics

August 1990

Volume 38, Issue 2

Pages 81–159

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    1. Spinal muscular atrophy type I combined with atrial septal defect in three sibs (pages 81–83)

      P. Møller, N. Moe, O. D. Saugstad, K. Skullerud, M. Velken, K. Berg, S. Nitter-Hauge and A.-L. Børresen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03553.x

    2. Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports (pages 84–93)

      T. D. Wardinsky, R. A. Pagon, B. R. Powell, B. McGillivray, M. Stephan, J. Zonana and A. Moser

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03554.x

    3. Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome (pages 94–104)

      H.-M. Yang, T. Lund, E. Niebuhr, S. Nørby, M. Schwartz and L. Shen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03555.x

    4. Heart-hand syndrome II. A report of Tabatznik syndrome with new findings (pages 105–113)

      Margherita C. Silengo, M. Biagioli, A. Guala, Graciela Lopez-Bell and R. Lala

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03556.x

    5. Right-sided microtia and conductive hearing loss with variable expressivity in three generations (pages 117–120)

      Karen Helene Ørstavik, Sverre Medbø and Iain W. S. Mair

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03558.x

    6. Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16) (pages 121–125)

      Rosalind Hastings, Beverley Hamer, Simon Roth and Mary Lucas

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03559.x

    7. Disomic balanced reciprocal translocation (pages 126–127)

      Patrick L. Wilmot, Lawrence R. Shapiro and Anthony C. Casamassima

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03560.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    1. Incontinentia pigmenti: XXY male with a family history (pages 128–138)

      J. García-Dorado, P. de Unamuno, E. Fernández-López, J. Salazar Veloz and M. Armijo

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03561.x

    2. The Proteus syndrome: association with nephrogenic diabetes insipidus (pages 139–144)

      Gökhan S. Hotamisligil and Fadil Ertogan

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03562.x

    3. Congenital tracheal stenosis in Pfeiffer syndrome (pages 145–148)

      Pamela Stone, Cynthia L. Trevenen, Ian Mitchell and Noreen Rudd

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03563.x

    4. Megalocornea, macrocephaly, mental and motor retardation (MMMM) (pages 149–154)

      M. Frydman, M. Berkenstadt, A. Raas-Rothschild and R. M. Goodman

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03564.x

    5. Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion (pages 155–159)

      E. Legius, E. Baten, M. Stul, P. Marynen and J.-J. Cassiman

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1990.tb03565.x

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