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There are 25934 results for: content related to: Elements of morphology: Standard terminology for the nose and philtrum

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    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

    Version of Record online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32612

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    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

    Version of Record online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32602

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    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1628–1640, Sérgio B. Sousa, Omar A. Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Gabriele Gillessen-Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice-Picard, Elizabeth Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte-Dijkstra, Alain Verloes, Emma Wakeling, Louise Wilson and Raoul C.M. Hennekam

    Version of Record online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32956

  4. Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

    American Journal of Medical Genetics

    Volume 94, Issue 2, 11 September 2000, Pages: 125–140, Livija Celle, Laura Lee, Natalie Rintoul, Rashmin C. Savani, Wendy Long, Michael T. Mennuti and Ian D. Krantz

    Version of Record online : 7 SEP 2000, DOI: 10.1002/1096-8628(20000911)94:2<125::AID-AJMG5>3.0.CO;2-F

  5. New perspectives on the face in fetal alcohol syndrome: What anthropometry tells us

    American Journal of Medical Genetics

    Volume 109, Issue 4, 15 May 2002, Pages: 249–260, Elizabeth S. Moore, Richard E. Ward, Paul L. Jamison, Colleen A. Morris, Patricia I. Bader and Bryan D. Hall

    Version of Record online : 26 MAR 2002, DOI: 10.1002/ajmg.10197

  6. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 118–128, Chahira Kozma, Anne M. Slavotinek and Jeanne M. Meck

    Version of Record online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20332

  7. Mutation analysis of B3GALTL in Peters Plus syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2603–2610, Linda M. Reis, Rebecca C. Tyler, Omar Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Amanda Bergner and Elena V. Semina

    Version of Record online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32498

  8. DOOR syndrome: Clinical report, literature review and discussion of natural history

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2821–2831, Aaron W. James, Suzette G. Miranda, Kathy Culver, Bryan D. Hall and Mahin Golabi

    Version of Record online : 9 NOV 2007, DOI: 10.1002/ajmg.a.32054

  9. Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2469–2478, Christèle du Souich, Athena Chou, Jingyi Yin, Tracey Oh, Tanya N. Nelson, Jane Hurlburt, Laura Arbour, Robin Friedlander, Barbara C. McGillivray, Nataliya Tyshchenko, Andreas Rump, Kenneth J. Poskitt, Michelle K. Demos, Margot I. Van Allen and Cornelius F. Boerkoel

    Version of Record online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33071

  10. Further delineation of the chromosome 14q terminal deletion syndrome

    American Journal of Medical Genetics

    Volume 110, Issue 1, 1 June 2002, Pages: 65–72, Clara D.M. van Karnebeek, Safira Quik, Sigrid Sluijter, Miriam M.F. Hulsbeek, Jan M.N. Hoovers and Raoul C.M. Hennekam

    Version of Record online : 9 APR 2002, DOI: 10.1002/ajmg.10207

  11. Recognition of facial features of fetal alcohol syndrome in the newborn

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 127C, Issue 1, 15 May 2004, Pages: 21–27, Joan Marilyn Stoler and Lewis Ball Holmes

    Version of Record online : 6 APR 2004, DOI: 10.1002/ajmg.c.30012

  12. Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 906–913, Francesca R. Grati, Marci M. Lesperance, Simona De Toffol, Sara Chinetti, Angelo Selicorni, Sarah Emery, Beatrice Grimi, Francesca Dulcetti, Barbara Malvestiti, Joseph Taylor, Silvia Milani, Anna M. Ruggeri, Federico Maggi and Giuseppe Simoni

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32754

  13. Nasal dimensions in normal subjects: Conventional anthropometry versus computerized anthropometry

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 3, 15 October 2004, Pages: 228–233, Chiarella Sforza, Claudia Dellavia, Anna Colombo, Graziano Serrao and Virgilio F. Ferrario

    Version of Record online : 24 AUG 2004, DOI: 10.1002/ajmg.a.30275

  14. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1641–1653, Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pie, Victoria Siu, Feliciano J. Ramos, Ian D. Krantz and Matthew A. Deardorff

    Version of Record online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33441

  15. Development and validation of a measure of dysmorphology: Useful for autism subgroup classification

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1101–1116, Judith H. Miles, T. Nicole Takahashi, Julie Hong, Nicole Munden, Nancy Flournoy, Stephen R. Braddock, Rick A. Martin, M. Anne Spence, Richard E. Hillman and Janet E. Farmer

    Version of Record online : 28 MAR 2008, DOI: 10.1002/ajmg.a.32244

  16. Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 821–827, Ana C. Laus, Wagner A.R. Baratela, Lucimar A.F. Laureano, Silvio A. Santos, Jair Huber, Ester S. Ramos, Camila C. Rebelo, Jeremy A. Squire and Lucia Martelli

    Version of Record online : 21 FEB 2012, DOI: 10.1002/ajmg.a.32988

  17. A phenotype map for 14q32.3 terminal deletions

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 695–706, Hartmut Engels, Herdit M. Schüler, Alexander M. Zink, Eva Wohlleber, Antje Brockschmidt, Alexander Hoischen, Matthias Drechsler, Jennifer A. Lee, Kerstin U. Ludwig, Christian Kubisch, Gesa Schwanitz, Ruthild G. Weber, Barbara Leube, Raoul C. M. Hennekam, Sabine Rudnik-Schöneborn, Martina Kreiß-Nachtsheim and Heiko Reutter

    Version of Record online : 24 FEB 2012, DOI: 10.1002/ajmg.a.35256

  18. Valproate embryopathy: Clinical and cognitive profile in 5 siblings

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 202–206, Elizabeth K. Schorry, Sonya G. Oppenheimer and Howard M. Saal

    Version of Record online : 24 JAN 2005, DOI: 10.1002/ajmg.a.30494

  19. 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

    Version of Record online : 6 JUL 2004, DOI: 10.1002/ajmg.a.30142

  20. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2337–2345, Elena W.Y. Hsieh, Karin Vargervik and Anne M. Slavotinek

    Version of Record online : 11 AUG 2008, DOI: 10.1002/ajmg.a.32368