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There are 15051 results for: content related to: Massive lymphedema, atrial septal defect, mild mental retardation: Possible case of Irons–Bianchi syndrome

  1. Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 20, 15 October 2007, Pages: 2448–2451, M.A.M. van Steensel, M. van Geel, C. Schrander-Stumpel, P.M. Steijlen and J.C.J.M. Veraart

    Version of Record online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31949

  2. Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 121–130, M Klaassens, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, F Malfait, H Staal, LC ten Have, J Blaauw, HCJ Roggeveen, D Krakow, A De Paepe, MAM van Steensel, G Pals, JM Graham and CTRM Schrander-Stumpel

    Version of Record online : 24 AUG 2011, DOI: 10.1111/j.1399-0004.2011.01758.x

  3. Finlay–Marks syndrome: Report of two siblings and review of literature

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1696–1701, Prashant Naik, Pushpa Kini, Deepti Chopra and Yogesh Gupta

    Version of Record online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35389

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    Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 233–241, Vishal K. Agarwal, Ralph S. Lachman, David L. Rimoin and William R. Wilcox

    Version of Record online : 13 JUN 2005, DOI: 10.1002/ajmg.a.30805

  5. The face of Joubert syndrome: A study of dysmorphology and anthropometry

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3235–3242, Stephen R. Braddock, Kimberly M. Henley and Bernard L. Maria

    Version of Record online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32099

  6. Hair curvature: a natural dialectic and review

    Biological Reviews

    Volume 89, Issue 3, August 2014, Pages: 723–766, Joseph N. Nissimov and Asit Baran Das Chaudhuri

    Version of Record online : 12 MAR 2014, DOI: 10.1111/brv.12081

  7. Noble Identity and Culture. Recent Historiography on the Nobility in the Medieval Low Countries III

    History Compass

    Volume 12, Issue 3, March 2014, Pages: 287–299, Arie van Steensel

    Version of Record online : 5 MAR 2014, DOI: 10.1111/hic3.12135

  8. Reply to correspondence from van Steensel—“Poland anomaly: Not unilateral or bilateral, but mosaic”

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 2, 1 March 2004, Page: 213, Christo Dimitrov Shipkov and Yourii Konstantinov Anastassov

    Version of Record online : 16 JUL 2003, DOI: 10.1002/ajmg.a.20394

  9. Domains of the human androgen receptor and glucocorticoid receptor involved in binding to the nuclear matrix

    Journal of Cellular Biochemistry

    Volume 57, Issue 3, March 1995, Pages: 465–478, Bas van Steensel, Guido Jenster, Klaus Damm, Albert O. Brinkmann and Roel van Driel Dr.

    Version of Record online : 19 FEB 2004, DOI: 10.1002/jcb.240570312

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    Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1715–1725, Kym M. Boycott, Jillian S. Parboosingh, James N. Scott, D. Ross McLeod, Cheryl R. Greenberg, T. Mary Fujiwara, Jean K. Mah, Julian Midgley, Andrew Wade, Francois P. Bernier, Bernard N. Chodirker, Martin Bunge and A. Micheil Innes

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31832

  11. Repair of a Cicatricial Epicanthal Fold by a Double Z-Plasty (Spaeth)

    The Journal of Dermatologic Surgery and Oncology

    Volume 8, Issue 3, March 1982, Pages: 215–217, LAWRENCE M. FIELD

    Version of Record online : 19 JUN 2013, DOI: 10.1111/j.1524-4725.1982.tb00267.x

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    Ectodermal dysplasias: Clinical and molecular review

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1980–2002, Átila F. Visinoni, Toni Lisboa-Costa, Nina A.B. Pagnan and Eleidi A. Chautard-Freire-Maia

    Version of Record online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32864

  13. Gap junction diseases of the skin

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

    Volume 131C, Issue 1, 15 November 2004, Pages: 12–19, M.A.M. van Steensel

    Version of Record online : 5 OCT 2004, DOI: 10.1002/ajmg.c.30030

  14. Molecular genetics of hereditary hair and nail disease

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

    Volume 131C, Issue 1, 15 November 2004, Pages: 52–60, M.A.M. van Steensel, M. van Geel and P.M. Steijlen

    Version of Record online : 5 OCT 2004, DOI: 10.1002/ajmg.c.30034

  15. Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1189–1195, Samia A. Temtamy, Minna Männikkö, Ghada M.H. Abdel-Salam, Nihal A. Hassan, Leena Ala-Kokko and Hanan H. Afifi

    Version of Record online : 24 APR 2006, DOI: 10.1002/ajmg.a.31205

  16. Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?

    American Journal of Medical Genetics

    Volume 101, Issue 3, 1 July 2001, Pages: 213–220, L.I. Al-Gazali, L. Sztriha, F. Skaff and D. Haas

    Version of Record online : 4 MAY 2001, DOI: 10.1002/ajmg.1352

  17. Mendelian Disorders of Cornification (MEDOC): The Keratodermas

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Maurice A. M. van Steensel, Peter M. Steijlen, Pages: 120.1–120.26, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch120

  18. You have full text access to this OnlineOpen article
    Neural stem cell transcriptional networks highlight genes essential for nervous system development

    The EMBO Journal

    Volume 28, Issue 24, December 16, 2009, Pages: 3799–3807, Tony D Southall and Andrea H Brand

    Version of Record online : 22 OCT 2009, DOI: 10.1038/emboj.2009.309

  19. 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

  20. Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

    American Journal of Medical Genetics

    Volume 70, Issue 3, 13 June 1997, Pages: 315–323, M. A. M. van Steensel, P. Buma, M. C. de Waal Malefijt, F. H. J. van den Hoogen and H. G. Brunner

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O