American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 May 1994

Volume 50, Issue 4

Pages fmi–fmi, 311–393

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
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      Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Congenital heart defects in Aarskog syndrome (pages 318–322)

      Isabel Fernandez, Masato Tsukahara, Hiroshi Mito, Hideki Yoshii, Masashi Uchida, Kiyosato Matsuo and Tadashi Kajii

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500404

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Recombinant chromosome 18 resulting from a maternal pericentric inversion (pages 323–325)

      Hiroshi Ayukawa, Masato Tsukahara, Masamichi Fukuda and Osamu Kondoh

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500405

  4. NICHD Conference

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
  5. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964–1993 (pages 339–343)

      John M. Opitz, Victor B. Penchaszadeh, Mary C. Holt, LaVelle M. Spano and Vicki L. Smith

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500407

    2. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient (pages 347–352)

      Mira Irons, Ellen Roy Elias, G. S. Tint, Gerald Salen, Roger Frieden, Timothy M. Buie and Mary Ampola

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500409

    3. Abnormal bile acids in the Smith-Lemli-Opitz syndrome (pages 364–367)

      Marvin R. Natowicz and James E. Evans

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500413

    4. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS gene (pages 368–374)

      Margaret Wallace, Roberto T. Zori, Tiffany Alley, Elaine Whidden, Brian A. Gray and Charles A. Williams

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320500414

  6. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Smith-Lemli-Opitz syndrome: Biochemical before clinical diagnosis; early dietary management (pages 375–376)

      Ngozi A. Nwokoro, Bruce Hyde and John J. Mulvihill

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500415

  7. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Mosaic tetrasomy 8p in two patients: Clinical data and review of the literature (pages 377–380)

      Constance T. R. M. Schrander-Stumpel, Lutgarde C. P. Govaerts, John J. M. Engelen, Marianne van der Blij-Philipsen, Martine Borghgraef, Wil J. G. Loots, Jan J. M. Peters, Wilhelmina P. M. Rijnvos, Dominique F. C. M. Smeets and Jean-Pierre Fryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500416

  8. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Pseudo-trisomy 13 syndrome with upper limb shortness and radial/ulnar hypoplasia (page 382)

      Richard G. Boles, Ahmad S. Teebi, Kathryn A. Neilson and M. Stephen Meyn

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320500418

    2. Oligosymptomatic hypothyroidism presenting as apparent spondyloepiphyseal dysplasia (page 385)

      Professor Dr. Med. Drs. h.c. Hans-Rudolf Wiedemann

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500420

    3. Waardenburg syndrome and neural tube defects (page 387)

      D. Lindhout

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500422

  9. Rapid Publication

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor
    1. Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families (pages 388–390)

      Ulrike Orth, Fiorella Gurrieri, Annemarie Behmel, Maurizio Genuardi, Marion Cremer, Prof. Dr. med. Andreas Gal and Giovanni Neri

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500423

  10. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. NICHD Conference
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Letters to the Editor
    10. Rapid Publication
    11. Letters to the Editor

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