Clinical Genetics

Cover image for Clinical Genetics

May 1996

Volume 49, Issue 5

Pages 223–278

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA marker at Candidate Locus
    1. Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity (pages 223–231)

      James German, Nathan A. Ellis and Maria Proytcheva

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03778.x

    2. The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year (pages 232–236)

      Lieve Denayer, Myriam Welkenhuysen, Gerry Evers-Kiebooms, Jean-Jacques Cassiman and Herman Van den Berghe

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03779.x

    3. Cohen syndrome: the clinical symptoms and stigmata at a young age (pages 237–241)

      Jean-Pierre Fryns, Eric Legius, Koen Devriendt, Françoise Meire, Lieve Standaert, Emiel Baten and Herman Van den Berghe

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03780.x

    4. Marker chromosome identification by micro-FISH (pages 242–248)

      John J. M. Engelen, Wil J. G. Loots, Petra C. C. Motoh, Ute Moog, Guus J. H. Hamers and Joep P. M. Geraedts

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03781.x

    5. Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association (pages 249–254)

      S. P. Lyngstadaas, C-J. Crossner, H. Nazer, P. S. Thrane and H. Nordbø

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03782.x

    6. Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy (pages 255–260)

      Toshihiro Takenaka, Hitoshi Sakuraba, Kiyoshi Hashimoto, Osamu Fujino, Takehisa Fujita, Hiromitsu Tanaka and Yoshiyuki Suzuki

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03783.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA marker at Candidate Locus
    1. Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis (pages 261–266)

      R. Petrusevska, U. Beudt, D. Schäfer, M. Schneider, E. Brude, C. Leitner, K. Heller and J. Arnemann

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03784.x

    2. Biliary malformation with renal tubular insufficiency in two male infants: third family report (pages 267–270)

      F. Papadia, L. Pollice, B. Natale, R. Bellantuono, P. Conti and F. Carnevale

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03785.x

    3. Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3) (pages 271–273)

      P. Wieacker, D. Missbach, S. Jakubiczka, S. Borgmann and N. Albers

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03786.x

    4. A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs (pages 274–276)

      D. Concolino, D. Sperlì, R. Cinti, P. Strisciuglio and G. Andria

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03787.x

  3. Short Report on DNA marker at Candidate Locus

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA marker at Candidate Locus
    1. Detection of the Pvull RFLP in intron 15 of the LDL receptor gene by long-distance PCR (pages 277–278)

      Lana du Plessis and Maritha J. Kotze

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03788.x

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