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There are 424643 results for: content related to: Am J Med Genet Part A 146A:1101–1116 Development and validation of a measure of dysmorphology: Useful for autism subgroup classification

  1. Reply to Richards: “Predictive Genetic Testing of Adolescents for Huntington Disease: A Question of Autonomy and Harm”

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2447–2448, Rony E. Duncan, Lynn Gillam, Julian Savulescu, Robert Williamson, John G. Rogers and Martin B. Delatycki

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32480

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    Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287–1296

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Page: 2713, Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin and Angelo Selicorni

    Article first published online : 24 SEP 2008, DOI: 10.1002/ajmg.a.32469

  3. SOX10 mutation in Waardenburg syndrome type II

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2162–2163, Manami Iso, Maki Fukami, Reiko Horikawa, Noriyuki Azuma, Nobuko Kawashiro and Tsutomu Ogata

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32403

  4. Sacral appendage in a child with an FGFR2 mutation: A report and review

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2172–2175, Alan L. Shanske, David Staffenberg and James T. Goodrich

    Article first published online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32436

  5. Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2346–2354, H.L. Newkirk, D.C. Bittel and M.G. Butler

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32459

  6. 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

    Article first published online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32498

  7. Genotype–phenotype correlations in Rubinstein–Taybi syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2512–2519, E.K. Schorry, M. Keddache, N. Lanphear, J.H. Rubinstein, S. Srodulski, D. Fletcher, R.I. Blough-Pfau and G.A. Grabowski

    Article first published online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32424

  8. High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2520–2527, Aleksander Hinek, Shailly Jain, Glenn Taylor, David Nykanen and David Chitayat

    Article first published online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32474

  9. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2412–2416, Khalid Al-Thihli, Teresa Rudkin, Nancy Carson, Chantal Poulin, Serge Melançon and Vazken M. Der Kaloustian

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32456

  10. Winning a new priority for disabled children: the Every Disabled Child Matters campaign

    Journal of Public Affairs

    Volume 9, Issue 3, August 2009, Pages: 169–174, Steve Broach, Ben Coleman and Louise Franklin

    Article first published online : 24 JUN 2009, DOI: 10.1002/pa.324

  11. Molecular study of 33 families with Fraser syndrome new data and mutation review

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2252–2257, M.M. van Haelst, M. Maiburg, G. Baujat, S. Jadeja, E. Monti, E. Bland, K. Pearce, R.C. Hennekam and P.J. Scambler

    Article first published online : 31 JUL 2008, DOI: 10.1002/ajmg.a.32440

  12. Marshall–Smith syndrome and septo-optic dysplasia: An unreported association

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2138–2140, Laura Travan, Chiara Oretti, Floriana Zennaro and Sergio Demarini

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32430

  13. An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2159–2161, Toni Pearson, Fiona Curtis, Ayman Al-Eyadhy, Salem Al-Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri Bale, John Compton, Reena Ray, Patrick Scott and Vazken M. Der Kaloustian

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32412

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    Filippi syndrome: Further clinical characterization

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1848–1852, Agatino Battaglia, Tiziana Filippi, Silvia Pusceddu and Charles A. Williams

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32400

  15. A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2301–2303, Gareth Baynam, Nicholas Smith and Jack Goldblatt

    Article first published online : 31 JUL 2008, DOI: 10.1002/ajmg.a.32443

  16. You have free access to this content
    Encomium to accompany “Of Mice and Children: Reminiscences of a Teratogeneticist”

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2177–2178, Charles R. Scriver

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32471

  17. Rheological blends for drug delivery. II. Prolongation of nerve blockade, biocompatibility, and in vitro–in vivo correlations

    Journal of Biomedical Materials Research Part A

    Volume 92A, Issue 2, February 2010, Pages: 586–595, Todd Hoare, Evangelia Bellas, David Zurakowski and Daniel S. Kohane

    Article first published online : 11 MAR 2009, DOI: 10.1002/jbm.a.32420

  18. Mycophenolate mofetil embryopathy may be dose and timing dependent

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1963–1966, Ghee Soon Ang, Sheila A. Simpson and Aravind R. Reddy

    Article first published online : 20 JUN 2008, DOI: 10.1002/ajmg.a.32420

  19. Genital anomalies in a patient with Treacher Collins syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2169–2171, Dr. Karin Writzl, Jera Jeruc, Michael Oldridge, Borut Peterlin and Raoul C.M. Hennekam

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32404

  20. Predictive genetic testing of adolescents for Huntington disease: A question of autonomy and harm

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2443–2446, Fiona H. Richards

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32477