Search Results

There are 20619 results for: content related to: Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype

  1. You have free access to this content
    Elements of morphology: Standard terminology for the hands and feet

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 93–127, Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple and Helga Toriello

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32596

    Corrected by:

    Corrigendum: Corrigendum to “Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93–127”

    Vol. 158A, Issue 7, 1813, Article first published online: 18 JUN 2012

  2. You have free access to this content
    Elements of morphology: Standard terminology for the ear

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 40–60, Alasdair Hunter, Jaime L. Frias, Gabriele Gillessen-Kaesbach, Helen Hughes, Kenneth Lyons Jones and Louise Wilson

    Article first published online : 16 JAN 2009, DOI: 10.1002/ajmg.a.32599

  3. You have free access to this content
    Elements of morphology: Standard terminology for the head and face

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 6–28, Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke and Giovanni Neri

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32612

  4. You have free access to this content
    Elements of morphology: Standard terminology for the nose and philtrum

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 61–76, Raoul C.M. Hennekam, Valerie Cormier-Daire, Judith G. Hall, Károly Méhes, Michael Patton and Roger E. Stevenson

    Article first published online : 16 JAN 2009, DOI: 10.1002/ajmg.a.32600

  5. You have free access to this content
    Elements of morphology: Standard terminology for the lips, mouth, and oral region

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 77–92, John C. Carey, M. Michael Cohen Jr., Cynthia J.R. Curry, Koenraad Devriendt, Lewis B. Holmes and Alain Verloes

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32602

  6. You have free access to this content
    Elements of morphology: Standard terminology for the periorbital region

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 29–39, Bryan D. Hall, John M. Graham Jr., Suzanne B. Cassidy and John M. Opitz

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32597

  7. Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3252–3266, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide and Antonio Richieri-Costa

    Article first published online : 5 NOV 2007, DOI: 10.1002/ajmg.a.32090

  8. Hedgehog signaling update

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 1875–1914, M. Michael Cohen Jr.

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.32909

  9. You have free access to this content
    Vascular update: Morphogenesis, tumors, malformations, and molecular dimensions

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2013–2038, M. Michael Cohen Jr.

    Article first published online : 6 SEP 2006, DOI: 10.1002/ajmg.a.31333

  10. You have free access to this content
    Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 2944–2958, Julie C. Sapp, Joyce T. Turner, Jiddeke M. van de Kamp, Fleur S. van Dijk, R. Brian Lowry and Leslie G. Biesecker

    Article first published online : 26 OCT 2007, DOI: 10.1002/ajmg.a.32023

  11. Perspectives on asymmetry: The erickson lecture

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 2981–2998, M. Michael Cohen Jr.

    Article first published online : 6 NOV 2012, DOI: 10.1002/ajmg.a.34348

  12. The new bone biology: Pathologic, molecular, and clinical correlates

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2646–2706, M. Michael Cohen Jr.

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31368

  13. The external ear: More attention to detail may aid syndrome diagnosis and contribute answers to embryological questions

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 237–250, Alasdair G.W. Hunter and Takatoshi Yotsuyanagi

    Article first published online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30723

  14. Trisomy 16p: A longitudinal profile and photo essay

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 2, 15 January 2006, Pages: 174–179, Annemarie Sommer, Matthew Pastore and Gail Wenger

    Article first published online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31027

  15. Editorial: Perspectives on craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 313–326, M. Michael Cohen Jr

    Article first published online : 5 JUL 2005, DOI: 10.1002/ajmg.a.30757

  16. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 1, 15 September 2004, Pages: 55–72, Judith G. Hall, Christina Flora, Charles I. Scott Jr, Richard M. Pauli and Kimi I. Tanaka

    Article first published online : 3 AUG 2004, DOI: 10.1002/ajmg.a.30203

  17. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1268–1281, David Chitayat, Hana Sroka, Sarah Keating, Randall S. Colby, Greg Ryan, Ants Toi, Susan Blaser, Sandra Viero, Louise Devisme, Odile Boute-Bénéjean, Sylvie Manouvrier-Hanu, Geert Mortier, Bart Loeys, Anita Rauch and Pierre Bitoun

    Article first published online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31788

  18. SIX3 mutations with holoprosencephaly

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2577–2583, Lucilene Arilho Ribeiro, Kenia B. El-Jaick, Maximilian Muenke and Antonio Richieri-Costa

    Article first published online : 25 SEP 2006, DOI: 10.1002/ajmg.a.31377

  19. You have free access to this content
    Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1900–1906, Meena R. Julapalli, Richard K. Scher, Virginia P. Sybert, Elaine C. Siegfried and Alanna F. Bree

    Article first published online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32797

  20. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 352–363, Amy E. Roberts, Gerald F. Cox, Virginia Kimonis, Allen Lamb and Mira Irons

    Article first published online : 6 JUL 2004, DOI: 10.1002/ajmg.a.30142