American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 April 1994

Volume 50, Issue 3

Pages fmi–fmi, 215–309

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. Articles
    6. Letters to the Editor
    7. Book Review
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letters to the Editor
    7. Book Review
    1. Familial crossed polysyndactyly (pages 215–223)

      David J. Goldstein, Marios Kambouris and Richard E. Ward

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500302

    2. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome? (pages 224–227)

      Dr. Dieter Kotzot, Konrad Richter and Kornelia Gierth-Fiebig

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320500303

    3. Emery-Dreifuss syndrome: Genetic and clinical varieties (pages 228–233)

      G. E. Rudenskaya, Prof. E. K. Ginter, A. N. Petrin and N. A. Djomina

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500304

    4. Scalp-ear-nipple syndrome: Additional manifestations (pages 247–250)

      Matthew J. Edwards, David McDonald, Patrick Moore and John Rae

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320500307

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letters to the Editor
    7. Book Review
  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letters to the Editor
    7. Book Review
    1. Barth syndrome: Clinical observations and genetic linkage studies (pages 255–264)

      Dr. J. Christodoulou, R. R. McInnes, V. Jay, G. Wilson, L. E. Becker, D. C. Lehotay, B.-A. Platt, P. J. Bridge, B. H. Robinson and J. T. R. Clarke

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500309

    2. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G) (pages 265–271)

      Gregory M. Pastores, Filippo M. Santorelli, Sara Shanske, Bruce D. Gelb, Billie Fyfe, David Wolfe and Judith P. Willner

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500310

    3. Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC) (pages 272–281)

      Dr. Alisa M. Goldstein, Berham Pastakia, John J. Digiovanna, Susanna Poliak, Sandra Santucci, Ronald Kase, Allen E. Bale and Sherri J. Bale

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500311

    4. Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals (pages 282–290)

      Dr. Susan Shanley, John Ratcliffe, Athel Hockey, Eric Haan, Christine Oley, David Ravine, Nicole Martin, Carol Wicking and Georgia Chenevix-Trench

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500312

    5. Child with Sotos phenotype and a 5:15 translocation (pages 291–293)

      Christiane Maroun, Susan Schmerler and R. Gordon Hutcheon

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500313

    6. New variant of chromosome 11 (pages 294–295)

      V. Aiello, N. Ricci, P. Palazzi, G. D'Agostino, G. Azzini and E. Calzolari

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320500314

    7. Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8 (pages 296–299)

      Mr. John C. K. Barber, Rowena S. James, Christine Patch and I. Karen Temple

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500315

  5. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letters to the Editor
    7. Book Review
    1. Autosomal recessive Congenital Diaphragmatic Defects in the Arabs (pages 300–301)

      Talaat I. Farag, Laila Bastaki, Makia Marafie, Sadika A. Al-Awadi and Judith Krsz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500316

    2. Genetics of conotruncal malformations: Further evidence of autosomal recessive inheritance (pages 302–303)

      Azaria J. J. T. Rein and Ruth Sheffer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500317

    3. Midline malformation syndromes (page 304)

      Dr. Anita K. Sharma and Shubha R. Phadke

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500318

    4. Midline malformation syndromes: Reply to Sharma (page 305)

      Peter G. Pryde, Faisal Qureshi and Mark I. Evans

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500319

    5. Severe acrocallosal syndrome or acromelic frontonasal dysplasia? (page 306)

      Dr. Alain Verloes

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320500320

  6. Book Review

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letters to the Editor
    7. Book Review

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