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Norio Niikawa

Nagasaki University
Health Sciences University of Hokkaido
Hokkaido University

419

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30622

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Kabuki syndrome: international consensus diagnostic criteria

2019 Journal of Medical Genetics
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A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene

2017 Human Biology
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Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

2016 Clinical Genetics
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Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

2014 Cellular Signalling
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MLL2 and KDM6A mutations in patients with Kabuki syndrome

2013 American Journal of Medical Genetics Part A
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KDM6A Point Mutations Cause Kabuki Syndrome

2013 Human Mutation
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Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion

2013 Frontiers in Genetics
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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

2013 American Journal of Medical Genetics Part A
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Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

2012 American Journal of Medical Genetics Part A
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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

2012 Journal of Human Genetics
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Citations (79)