Clinical Genetics

Cover image for Clinical Genetics

May 1988

Volume 33, Issue 5

Pages 321–400

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Announcements
    5. Erratum
    1. Isolated “clinical anophthalmia” in an extensively affected Arab kindred (pages 321–324)

      Gertrude Kohn, Raghda El Shawwa and Eyyas El Rayyes

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03458.x

    2. Higher resolution banding techniques in the clinical routine (pages 325–330)

      Anna Latos-Bielenska and Horst Hameister

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03459.x

    3. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients (pages 331–348)

      Marie T. Vanier, David A. Wenger, Marcella E. Comly, Robert Rousson, Roscoe O. Brady and Peter G. Pentchev

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03460.x

    4. Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families (pages 349–355)

      David L. Meryash and Dianne Abuelo

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03461.x

    5. Partial 6p trisomy associated with infantile autism (pages 356–359)

      Larry Burd, John T. Martsolf, Jacob Kerbeshian and S. M. Jalal

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03462.x

    6. Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies (pages 360–371)

      L. Hasholt, A. Wandall and S. A. Sørensen

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03463.x

    7. 16q21 is critical for 16q deletion syndrome (pages 372–375)

      K. Naritomi, N. Shiroma, Y. Izumikawa, K. Sameshima, S. Ohdo and K. Hirayama

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03464.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Announcements
    5. Erratum
    1. Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement (pages 376–385)

      Yoshiyuki Suzuki, Akihiko Tsuji, Kiyoshi Omura, Gen Nakamura, Shoichi Awa, Marian Kroos and Arnold J. J. Reuser

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03465.x

    2. Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature (pages 386–389)

      G. Pierquin, C. Herens, P. Dodinval, J. Frederic, I. Weber, J. Senterre and J. P. Fryns

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03466.x

    3. X-linked recessive aqueductal stenosis without macrocephaly (pages 390–394)

      Richard I. Kelley, Michael T. Mennuti, William F. Hickey and Elaine H. Zackai

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03467.x

    4. Mixed hearing loss in Larsen Syndrome (pages 395–398)

      Christopher S. Stanley, James W. Thelin and Judith H. Miles

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03468.x

  3. Announcements

    1. Top of page
    2. Original Article
    3. Case Report
    4. Announcements
    5. Erratum
    1. Announcements (page 399)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03469.x

  4. Erratum

    1. Top of page
    2. Original Article
    3. Case Report
    4. Announcements
    5. Erratum
    1. You have free access to this content
      Erratum (page 400)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1988.tb03470.x

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