Clinical Genetics

Cover image for Clinical Genetics

July 1993

Volume 44, Issue 1

Pages 1–56

  1. Original Article

    1. Top of page
    2. Original Article
    3. Genetics and Ethics
    4. Short Communication
    5. Letter to the Editor
    6. Announcement
    1. Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome (pages 1–7)

      R. Rizzo, L. Pavone, G. Micali and J. G. Hall

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03832.x

    2. Prenatal diagnosis of congenital sialidosis (pages 8–11)

      N. Sasagasako, S. Miyahara, N. Saito, N. Shinnoh, T. Kobayashi and I. Goto

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03833.x

    3. Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients (pages 12–14)

      Kristin Eiklid, Lisbeth Tranebjærg, Hans G. Eiken, Jan C. Pedersen, Helge Michalsen, Gjermund Fluge, Marianne Schwartz, Bjørn R. Nilsen, Roald Bolle, Dag Skyberg, Helge Boman and Kare Berg

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03834.x

    4. Congenital contractural arachnodactyly in two double second cousins: possible homozygosity (pages 15–19)

      Tzvy Bistritzer, Kalman Fried, Eli Lahat, Michaela Dvir and Michael Goldberg

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03835.x

    5. Craniofacial anthropometric studies in Waardenburg syndrome type I (pages 20–25)

      Elias O. Da-Silva, Jose E. M. Batista, Marco A. B. Medeiros and Sônia M. S. Fonteles

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03836.x

    6. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS (pages 26–31)

      Carsten A. Brandt, Ole Kierkegaard, Johnny Hindkjær, Peter K. A. Jensen, Søren Pedersen and Aage J. Therkelsen

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03837.x

    7. A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984 (pages 32–36)

      A. E. Czeizel, M. Vitéz, I. Kodaj and W. Lenz

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03838.x

  2. Genetics and Ethics

    1. Top of page
    2. Original Article
    3. Genetics and Ethics
    4. Short Communication
    5. Letter to the Editor
    6. Announcement
    1. Proposed: an international code of ethics for medical genetics (pages 37–43)

      Dorothy C. Wertz and John C. Fletcher

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03839.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Genetics and Ethics
    4. Short Communication
    5. Letter to the Editor
    6. Announcement
    1. A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families (pages 44–45)

      Michal Witt, Jadwiga Jaruzelska, Izabela Kuczora, Renata Matuszak, Wojciech Cichy and Krzysztof Borski

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03840.x

  4. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Genetics and Ethics
    4. Short Communication
    5. Letter to the Editor
    6. Announcement
    1. Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13) (pages 46–47)

      J. P. Fryns, A. Kleczkowska and H. van den Berghe

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03841.x

    2. Phenotypic intrafamilial heterogeneity in cystic fibrosis (pages 48–49)

      G. Borgo, G. Cabrini, G. Mastella, P. Ronchetto, M. Devoto and G. Romeo

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03842.x

    3. The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization (page 50)

      Yoshimitsu Fukushima, Hirofumi Ohashi and Tomonobu Hasegawa

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03843.x

    4. Malignant lymphoma in a Bloom's syndrome patient treated with insulin (pages 51–52)

      Naomi Kondo, Yukiji Yamada, Junichi Asano, Yoshikazu Yagi and Tadao Orii

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03844.x

    5. Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25 (pages 53–55)

      Alina T. Midro, Krystyna Debek, Anna Sawicka, Danuta Marcinkiewicz and Marianna Rogowska

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03845.x

  5. Announcement

    1. Top of page
    2. Original Article
    3. Genetics and Ethics
    4. Short Communication
    5. Letter to the Editor
    6. Announcement
    1. Announcement (page 56)

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1993.tb03846.x

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