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There are 3200 results for: content related to: Audiological and vestibular findings in the Kabuki syndrome

  1. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 234–243, Constance Th.R.M. Schrander-Stumpel, Liesbeth Spruyt, Leopold M.G. Curfs, Truus Defloor and Jaap J.P. Schrander

    Article first published online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30331

  2. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 3, 15 December 2003, Pages: 249–252, Jeffrey E. Ming, Karen L. Russell, Lynn Bason, Donna M. McDonald-McGinn and Elaine H. Zackai

    Article first published online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20277

  3. Kabuki syndrome: a review

    Clinical Genetics

    Volume 67, Issue 3, March 2005, Pages: 209–219, MP Adam and L Hudgins

    Article first published online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00348.x

  4. Unmasking Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 201–211, N Bögershausen and B Wollnik

    Article first published online : 26 NOV 2012, DOI: 10.1111/cge.12051

  5. Further delineation of Kabuki syndrome in 48 well-defined new individuals

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 265–272, Linlea Armstrong, Azza Abd El Moneim, Kirk Aleck, David J. Aughton, Clarisse Baumann, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, John M. Graham Jr, Theresa A. Grebe, Karen W. Gripp, Bryan D. Hall, Raoul Hennekam, Alasdair Hunter, Kim Keppler-Noreuil, Didier Lacombe, Angela E. Lin, Jeffrey E. Ming, Nancy Mizue Kokitsu-Nakata, Sarah M. Nikkel, Nicole Philip, Annick Raas-Rothschild, Annemarie Sommer, Alain Verloes, Claudia Walter, Dagmar Wieczorek, Marc S. Williams, Elaine Zackai and Judith E. Allanson

    Article first published online : 22 DEC 2004, DOI: 10.1002/ajmg.a.30340

  6. Kabuki Syndrome

    Management of Genetic Syndromes

    Sarah Dugan, Louanne Hudgins, Pages: 469–477, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch32

  7. Kabuki Syndrome

    Standard Article

    Management of Genetic Syndromes

    Louanne Hudgins

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs027

  8. Congenital heart defects in Kabuki syndrome

    American Journal of Medical Genetics

    Volume 100, Issue 4, 15 May 2001, Pages: 269–274, Maria Cristina Digilio, Bruno Marino, Alessandra Toscano, Aldo Giannotti and Bruno Dallapiccola

    Article first published online : 4 APR 2001, DOI: 10.1002/ajmg.1265

  9. Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: A preliminary study

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 248–255, Carolyn B. Mervis, Angela M. Becerra, Melissa L. Rowe, Joseph H. Hersh and Colleen A. Morris

    Article first published online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30334

  10. Kabuki make-up syndrome: A review

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

    Volume 117C, Issue 1, 15 February 2003, Pages: 57–65, Naomichi Matsumoto and Norio Niikawa

    Article first published online : 17 DEC 2002, DOI: 10.1002/ajmg.c.10020

  11. Congenital corneal staphyloma as a complication of Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2000–2002, Ryuma Tanaka, Toshiki Takenouchi, Keiko Uchida, Takeshi Sato, Hiroyuki Fukushima, Hiroshi Yoshihashi, Takao Takahashi, Kazuo Tsubota and Kenjiro Kosaki

    Article first published online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35453

  12. Symptomatic Chiari I malformation in Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 273–275, Karen L. Ciprero, Jill Clayton-Smith, Dian Donnai, Robert A. Zimmerman, Elaine H. Zackai and Jeffrey E. Ming

    Article first published online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30387

  13. Speech and language in a genotyped cohort of individuals with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1483–1492, Angela T. Morgan, Cristina Mei, Annette Da Costa, Joanne Fifer, Damien Lederer, Valérie Benoit, Margaret J. McMillin, Kati J. Buckingham, Michael J. Bamshad, Kate Pope and Susan M. White

    Article first published online : 8 MAR 2015, DOI: 10.1002/ajmg.a.37026

  14. Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 64–68, D. Geneviève, J. Amiel, G. Viot, M. Le Merrer, D. Sanlaville, A. Urtizberea, M. Gérard, A. Munnich, V. Cormier-Daire and Stanislas Lyonnet

    Article first published online : 11 JUN 2004, DOI: 10.1002/ajmg.a.30144

  15. Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome

    Echocardiography

    Volume 29, Issue 6, July 2012, Pages: E145–E147, Aarti H. Bhat, Jennifer Davenport and Mark Cocalis

    Article first published online : 13 FEB 2012, DOI: 10.1111/j.1540-8175.2011.01651.x

  16. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1511–1516, Mark C. Hannibal, Kati J. Buckingham, Sarah B. Ng, Jeffrey E. Ming, Anita E. Beck, Margaret J. McMillin, Heidi I. Gildersleeve, Abigail W. Bigham, Holly K. Tabor, Heather C. Mefford, Joseph Cook, Koh-ichiro Yoshiura, Tadashi Matsumoto, Naomichi Matsumoto, Noriko Miyake, Hidefumi Tonoki, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Hirofumi Ohashi, Kenji Kurosawa, Jia-Woei Hou, Tohru Ohta, Deshung Liang, Akira Sudo, Colleen A. Morris, Siddharth Banka, Graeme C. Black, Jill Clayton-Smith, Deborah A. Nickerson, Elaine H. Zackai, Tamim H. Shaikh, Dian Donnai, Norio Niikawa, Jay Shendure and Michael J. Bamshad

    Article first published online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34074

  17. A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 4, 1 November 2004, Pages: 389–392, Grace David, David Sillence, Robert Hardwick and John M. Opitz

    Article first published online : 7 SEP 2004, DOI: 10.1002/ajmg.a.20599

  18. Patient with Kabuki syndrome and acute leukemia

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 76–79, Sabine Scherer, Ursel Theile, Vera Beyer, Rudolf Ferrari, Christiane Kreck and Manfred Rister

    Article first published online : 23 MAY 2003, DOI: 10.1002/ajmg.a.20261

  19. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2003–2008, Nancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, Siulan Vendramini-Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey Clark Murray and Antonio Richieri-Costa

    Article first published online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35454

  20. Expressive language in children with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 256–259, Truus Defloor, John van Borsel, Constance T.R.M. Schrander-Stumpel and Leopold M.G. Curfs

    Article first published online : 2 DEC 2004, DOI: 10.1002/ajmg.a.30333