Clinical Genetics

Cover image for Clinical Genetics

January 1996

Volume 49, Issue 1

Pages 1–56

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    1. A new year, a new start (page 1)

      Kare Berg

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04314.x

    2. A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly (pages 2–5)

      Alain Verloes, Paul Jamblin, Lucien Koulischer and Jean-Pierre Bourguignon

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04315.x

    3. Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism (pages 6–9)

      Koenraad Devriendt, Herman Van den Berghe and Jean-Pierre Fryns

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04316.x

    4. Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings (pages 10–14)

      Alessandra Ferlini, Fabrizio Salvi, Antonino Uncini, Jasmin El-Chami, Pia Winter, Klaus Altland, Monica Repetto, Massimo Littardi, Andrea Campoleoni, Paolo Vezzoni and Maria Cristina Patrosso

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04317.x

    5. Peripheral blood cell counts in infants with Down's syndrome (pages 15–19)

      S. M. Kivivuori, J. Rajantie and M. A. Siimes

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04318.x

    6. Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment (pages 20–27)

      A. J. Barnicoat, J. L. Bonneau, E. Boyd, Z. Docherty, S.J. Fennell, J. L. Huret, M. King, E. L. Maltby, S. McManus, D. T. Pilz, E. Shafei-Benaissa, M. Super and J. Tolmie

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04319.x

    7. The spectrum of ocular features in the Williams-Beuren syndrome (pages 28–31)

      M. Winter, R. Pankau, Marita Amm, Angela Gosch and A. Wessel

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04320.x

    8. An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes (pages 32–36)

      M. Pierluigi, C. Perfumo, S. Cavani, H. Lehrach, D. Nizetic and F. Dagna Bricarelli

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04321.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    1. The phenotype of a 45, X male with a Y/18 translocation (pages 37–41)

      Giorgio Gimelli, Roberta Cinti, Paolo Varone, Arturo Naselli, Eliana Di Battista and Annalisa Pezzolo

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04322.x

    2. Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay (pages 42–45)

      Cora M. Aalfs, Marja E. Jacobs, Marlëlle A. Nieste-Otter, Raoul C. M. Hennekam and Jan M. N. Hoovers

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04323.x

    3. Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome? (pages 46–48)

      A. Hernández, Z. Nazará, M. C. Reynoso, A. Sarralde, L. Bobadilla and R. Fragoso

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04324.x

    4. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization (pages 49–53)

      Irene M. van Langen, Mariëlle A. Otter, Daniel C. Aronson, W.C.G. Overweg-Plandsoen, Raoul C.M. Hennekam, Nico J. Leschot and Jan M.N. Hoovers

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04325.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    1. G542X mutation in Mexican cystic fibrosis patients (pages 54–56)

      Maria Teresa Villarreal, Margarita Chávez, José Luis Lezana, Francisco Cuevas, Alessandra Carnevale, Emilio Códova, Rosa Ma, Del Angel and Lorena Orozco

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04326.x

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