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

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

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

 

2003  |  The Kabuki Syndrome: four patients with oral abnormalities

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

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

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2010  |  Genetic alterations common to KS discovered ...

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2010  |  MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

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2010  |  Management of Kabuki Syndrome: A Clinical Guideline

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2012  |  Hypothalamic pituitary complications in Kabuki syndrome

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2014  |   Autoimmune heaematological disorders in two Italian children with Kabuki

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2015  |  Kabuki syndrome genes KMT2D and KDM6A

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2015  |  Intellectual Disability Treatments - Dr. Hans Bjornsson

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2015  |  Insights into the molecular genetics of Kabuki syndrome

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

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

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2018  |  Kabuki syndrome: international consensus diagnostic criteria

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

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2019  |  Growth charts in Kabuki Syndrome 1

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

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2021| Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation

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2021 | A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the US and Canada

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