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There are 8004 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

    Version of Record online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30331

  2. Kabuki syndrome: a review

    Clinical Genetics

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

    Version of Record online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00348.x

  3. 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

    Version of Record online : 17 DEC 2002, DOI: 10.1002/ajmg.c.10020

  4. Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

    American Journal of Medical Genetics

    Volume 79, Issue 2, 1 September 1998, Pages: 112–120, Golder N. Wilson

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S

  5. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children

    American Journal of Medical Genetics

    Volume 59, Issue 3, 20 November 1995, Pages: 276–282, E. Galán-Gómez, J. J. Cardesa-García, F. M. Campo-Sampedro, C. Salamanca-Maesso, M. L. Martínez-Frías and J. L. Frías

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320590303

  6. 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

    Version of Record online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20277

  7. Unmasking Kabuki syndrome

    Clinical Genetics

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

    Version of Record online : 26 NOV 2012, DOI: 10.1111/cge.12051

  8. Kabuki Syndrome

    Management of Genetic Syndromes

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

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

  9. 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

    Version of Record online : 11 JUN 2004, DOI: 10.1002/ajmg.a.30144

  10. Dominant inheritance of Kabuki make-up syndrome

    American Journal of Medical Genetics

    Volume 73, Issue 1, 28 November 1997, Pages: 19–23, Masato Tsukahara, Yoshikazu Kuroki, Kiyoshi Imaizumi, Yoichiro Miyazawa and Kiyosato Matsuo

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971128)73:1<19::AID-AJMG5>3.0.CO;2-K

  11. 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

    Version of Record online : 4 APR 2001, DOI: 10.1002/ajmg.1265

  12. 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

    Version of Record online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30334

  13. 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

    Version of Record online : 7 SEP 2004, DOI: 10.1002/ajmg.a.20599

  14. 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

    Version of Record online : 23 MAY 2003, DOI: 10.1002/ajmg.a.20261

  15. 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

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35454

  16. Speech characteristics in the Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 4, 1 February 2003, Pages: 338–341, Sheila Upton, Carmella S. Stadter, Pat Landis and Eric A. Wulfsberg

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10039

  17. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations

    American Journal of Medical Genetics

    Volume 56, Issue 2, 27 March 1995, Pages: 127–131, Helena Ilyina, Iosif Lurie, Irena Naumtchik, Dmitry Amoashy, Galina Stephanenko, Valery Fedotov and Albina Kostjuk

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320560202

  18. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients

    American Journal of Medical Genetics

    Volume 31, Issue 3, November 1988, Pages: 565–589, Dr. Norio Niikawa, Yoshikazu Kuroki, Tadashi Kajii, Nobuo Matsuura, Satoshi Ishikiriyama, Hidefumi Tonoki, Nobuyoshi Ishikawa, Yutaka Yamada, Masafumi Fujita, Hidehiko Umemoto, Yoshihiko Iwama, Ikuko Kondoh, Yoshimitsu Fukushima, Yasushi Nako, Ichiro Matsui, Tatsuhiko Urakami, Sekoiya Aritaki, Michiko Hara, Yasuyuki Suzuki, Hiroyuki Chyo, Yoshitsugu Sugio, Tomoko Hasegawa, Tsutomu Yamanaka, Ryuichi Tsukino, Akira Yoshida, Naoki Nomoto, Satomi Kawahito, Ryozo Aihara, Shigeki Toyota, Atsushi Ieshima, Hiromu Funaki, Kazuyuki Ishitobi, Satoshi Ogura, Toshiaki Furumae, Makoto Yoshino, Yoshiro Tsuji, Tatsuro Kondoh, Tadashi Matsumoto, Kyohko Abe, Naoki Harada, Teruhisa Miike, Shozo Ohdo, Kenji Naritomi, A. K. Abushwereb, O. H. Braun, Erich Schmid, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320310312

  19. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 118–127, Dr. S.M. White, E.M. Thompson, A. Kidd, R. Savarirayan, A. Turner, D. Amor, M.B. Delatycki, M. Fahey, A. Baxendale, S. White, E. Haan, K. Gibson, J.L. Halliday and A. Bankier

    Version of Record online : 5 FEB 2004, DOI: 10.1002/ajmg.a.20674

  20. 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

    Version of Record online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30387