Medical Publications 

1981  |  A New Malformation Syndrome of long palpebral fissures … (Kuroki: 1981)

1981  |  Kabuki make-up syndrome … (Niikawa 1981)

1988  |  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

 

2003  |  The Kabuki Syndrome: four patients with oral abnormalities

2003  |  Coloboma and other Ophthalmologic Anomalies in KS: Distinction from Charge Association

2010  |  Exome sequencing identifies MLL2 mutations as cause of KS.

2010  |  Genetic alterations common to KS discovered ...

2010  |  MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

2010  |  Management of Kabuki Syndrome: A Clinical Guideline

2012  |  Hypothalamic pituitary complications in Kabuki syndrome

2014  |   Autoimmune heaematological disorders in two Italian children with Kabuki

2015  |  Kabuki syndrome genes KMT2D and KDM6A

2015  |  Intellectual Disability Treatments - Dr. Hans Bjornsson

2015  |  Insights into the molecular genetics of Kabuki syndrome

2015  |  Treatment for Intellectual Disabilities: Dr. Hans Bjornsson (You Tube Video)

2017  |  Taconic Biosciences Sponsors Custom Model to Support Kabuki Syndrome, a Rare Disorder Causing I.D.

2018  |  Kabuki syndrome: international consensus diagnostic criteria

2018  |  Growth Hormone Therapy in Kabuki Syndrome - D.A. Schott

2019  |  Growth charts in Kabuki Syndrome 1

2020 |  Using Exogenous βHB as an Epigenetic Modifier to Mitigate the Symptoms of Kabuki Syndrome