Skip to Main Content Area
Home
Dare to dream, courage to adapt, wisdom to rejoice

Kids with Kabuki Syndrome

Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.

There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.

For a current site see one of the following:

http://allthingskabuki.org
https://www.kabukisyndromefoundation.org

  • Home
  • Overview
    • Cause
    • Diagnosis
  • Health Issues
    • Facial
    • MusculoSkeletal
    • Neurological
    • Growth
    • Cardiac
    • Hearing
    • Vision
    • Sensory/Behavior
    • GastroIntestinal
    • Endocrine and GenitoUrinary
    • Immune/Blood Disorders
    • Ectodermal
  • Therapies
    • Physical Therapy
    • Occupational Therapy
    • Speech Therapy
    • Sensory Therapy
    • Feeding Therapy
    • Education
    • Other Therapies
  • Managing KS
    • Medical Management
    • Transition to Adulthood
    • Practical Tools
  • Research
    • Diagnosis
    • Genetics
    • Studies
  • Community
    • Professional Directory
    • Email Discussion Group
    • Personal Stories
    • Events
  • Resources
    • Glossary of Medical Terms
    • Publications
    • Newsletter
  • About KSN
Home
  • List
  • Filter

Publications

Sort by: Author [ Title  (Desc)] Type Year
Filters: Author is Mizuno, Seiji  [Clear All Filters]
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
S
Torii Y, Yagasaki H, Tanaka H, et al. "Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract
  • Google Scholar
M
Miyake N, Koshimizu E, Okamoto N, et al. "MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract
  • PubMed
  • Google Scholar
K
Miyake N, Mizuno S, Okamoto N, et al. "KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
  • PubMed
  • Google Scholar
I
Nakamura M, Mizuno S, Kumagai T. "[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]." No To Hattatsu. 2010;42(5):353-8. Abstract
  • Google Scholar

© 2011 Kabuki Syndrome Network   |    Disclaimer

  • Home
  • Overview
    • Cause
    • Diagnosis
  • Health Issues
    • Facial
    • MusculoSkeletal
    • Neurological
    • Growth
    • Cardiac
    • Hearing
    • Vision
    • Sensory/Behavior
    • GastroIntestinal
    • Endocrine and GenitoUrinary
    • Immune/Blood Disorders
    • Ectodermal
  • Therapies
    • Physical Therapy
    • Occupational Therapy
    • Speech Therapy
    • Sensory Therapy
    • Feeding Therapy
    • Education
    • Other Therapies
  • Managing KS
    • Medical Management
    • Transition to Adulthood
    • Practical Tools
  • Research
    • Diagnosis
    • Genetics
    • Studies
  • Community
    • Professional Directory
    • Email Discussion Group
    • Personal Stories
    • Events
  • Resources
    • Glossary of Medical Terms
    • Publications
    • Newsletter
  • About KSN