Clinical Genetics

Cover image for Clinical Genetics

June 1996

Volume 49, Issue 6

Pages 279–333

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation (pages 286–295)

      Katrina Mackay, Michael Raghunath, Andrea Superti-Furga, Beat Steinmann and Raymond Dalgleish

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03790.x

    2. Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family (pages 296–299)

      Erhun Kasirga, Ferda Özkinay, Sarenur Tütüncuoğlu, Sema Aydoğdu, Zafer Çolakoğlu, Ahmet Musoğlu, Ayşe Yağci, Baha Taneli and Raşit V. Yağci

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03791.x

    3. Branchio-oto (BO) syndrome and oculoauriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family (pages 300–302)

      A. Sensi, G. Cocchi, A. Martini, G. Garani, P. Trevisi and E. Calzolari

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03792.x

    4. A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique (pages 303–305)

      Ram S. Verma, Svetlana M. Kleyman, Radha Giridharan and K. H. Ramesh

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03793.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. Interstitial 6q deletion and Prader-Willi-like phenotype (pages 306–310)

      Constance K. Stein, Susan E. Stred, Laura L. Thomson, Frank C. Smith and Joe J. Hoo

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03794.x

    2. Fibular dimelia and mirror foot without associated anomalies (pages 311–313)

      Hüseyin Bayram, Mustafa Herdem and A. Kübra Temoçin

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03795.x

    3. Bloom's syndrome in a Turkish individual (pages 314–315)

      Ertan Yilmaz, Erkan Alpsoy, Güven Lüleci, Gülseren Bağci, Gülsün Gülay Yilmaz, Lütfiye Çetin and Erdal Başaran

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03796.x

    4. Partial trisomy 6p due to maternal t(1;6) translocation (pages 316–317)

      Minghao Song and Luyun Li

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03797.x

    5. A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality (pages 318–320)

      Mohamed M. Khalifa, Hirotaka Yamashiro, Alessandra M. V. Duncan, Michael Hefferon and Aryn E. Martin

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03798.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
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. Four frequently observed polymorphisms in the 3‘-UTR of human peripheral myelin protein 22 (PMP22): identification of different haplotypes (pages 321–322)

      Peter Young, Heiko Wiebusch, Florian Stögbauer, Bernd Ringelstein, Gerd Assmann and Harald Funke

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03799.x

    2. A Stu I polymorphism in the human androgen receptor gene (AR) (pages 323–324)

      Jianming Lu and Mark Danielsen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03800.x

  4. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II (pages 325–328)

      Margreet G. E. M. Ausems, Marian A. Kroos, Magna Van der Kraan, Jan A. M. Smeitink, Wim J. Kleijer, Hans Kristian Ploos van Amstel and Arnold J. J. Reuser

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03801.x

  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. Duodenal web in the syndrome of osteopathia striata with cranial sclerosis (pages 329–330)

      Benjamin Bar-Oz, Paul Mogle, Ziva Ben-Neriah, Ruth Sheffer and Ilan Arad

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03802.x

    2. Ataxia telangiectasia syndrome with B cell lymphoma (pages 331–332)

      Hideo Kaneko, Ryousuke Inoue, Yukiji Yamada, Kimiko Kasahara, Tsuyoshi Takami and Naomi Kondo

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03803.x

  6. Erratum

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. You have free access to this content
      Erratum (page 333)

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03805.x

  7. Announcements

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Report on DNA Marker at Candidate Locus
    5. Short Communication
    6. Letter to the Editor
    7. Erratum
    8. Announcements
    1. Synpolydactyly (Syndactyly Type II) (page 333)

      Dr. F. R. Goodman

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03804.x

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