American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 January 1994

Volume 49, Issue 2

Pages fmi–fmi, 149–259

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490201

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Genetic disorders that masquerade as multiple sclerosis (pages 149–169)

      Marvin R. Natowicz and Bassem Bejjani

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490202

    2. Survival in trisomy 18 (pages 170–174)

      Susan Root and John C. Carey

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490203

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    4. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development (pages 189–194)

      Bonnie J. Baty, Lynn B. Jorde, Brent L. Blackburn and John C. Carey

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490205

  3. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia (pages 195–197)

      Dr. M. L. Martínez-Frías, E. Bermejo, T. Sánchez Otero, M. Urioste, V. Morena and E. Cruz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490206

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Walker-Warburg syndrome: Report of three affected sibs (pages 198–201)

      Benjamin L. Rodgers, Lauren V. Vanner, G. S. Pai and Mary Anne Sens

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490207

    2. Familial hydrocephalus of prenatal onset (pages 202–204)

      Joël Zlotogora, Michal Sagi and Tirza Cohen

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490208

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Bilateral femoral hypoplasia associated with Rokitansky sequence: Another example of a mesodermal malformation spectrum? (pages 205–206)

      Claiton H. D. Bau, Cyntia A. Ribeiro, Schuber A. Ribeiro and Renato Z. Flores

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490209

  6. Brief Clinical Report and Literature Review

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. An infant with double trisomy (48,XXX, + 18) (pages 207–210)

      Somchit Jaruratanasirikul and Uraiwan Jinorose

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490210

  7. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Mutation analysis of 28 Gaucher disease patients: The Australasian experience (pages 218–223)

      Dr. Barry D. Lewis, Paul V. Nelson, Evelyn F. Robertson and C. Phillip Morris

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490212

    2. Newly recognized autosomal recessive faciothoracoskeletal syndrome (pages 224–228)

      A. Richieri-Costa, M. L. Guion-Almeida, J. R. P. Lauris and D. M. Ferreira

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490213

    3. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization (pages 229–234)

      Elizabeth A. Lindsay, Alessandra Grillo, Giovanni B. Ferrero, Elizabeth J. Roth, Ellen Magenis, Markus Grompe, Maj Hultén, Clive Gould, Antonio Baldini, Huda Y. Zoghbi and Andrea Ballabio

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490214

    4. Gypsy phenylketonuria: A point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia (pages 235–239)

      Jan Kalanin, Yutaka Takarada, Shohei Kagawa, Keiko Yamashita, Norimitsu Ohtsuka and Akira Matsuoka

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490215

    5. Prenatal diagnosis of Smith–Lemli–Opitz syndrome, type II (pages 240–243)

      Judith A. Johnson, David J. Aughton, Christine H. Comstock, Paul T. von Oeyen, James V. Higgins and Rex Schulz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490216

  8. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
  9. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance (pages 247–250)

      Dr. Michael Partington and Donald Anderson

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490218

  10. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    5. Articles
    6. Brief Clinical Report
    7. Brief Clinical Report and Literature Review
    8. Articles
    9. Brief Clinical Report
    10. New Syndrome
    11. Letter to the Editors
    1. Hellermann–Streiff syndrome in one of dizygotic twins (pages 251–252)

      Dr. Ahmed M. Al Khani and Abdullah S. Al Herbish

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490219

    2. Reply to Dr. Qumsiyeh (page 256)

      Dr. F. H. Menko, K. Madan, J. A. Baart and H. L. Beukenhorst

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490222

    3. Massive hydrocele in postpubertal fra(X) males (page 259)

      Dr. Jean-Pierre Fryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490224

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