相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Kabuki Syndrome-Clinical Review with Molecular Aspects
Snir Boniel et al.
GENES (2021)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
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The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
Dissecting KMT2D missense mutations in Kabuki syndrome patients
Dario Cocciadiferro et al.
HUMAN MOLECULAR GENETICS (2018)
H3K4 Methyltransferase Activity Is Required for MLL4 Protein Stability
Younghoon Jang et al.
JOURNAL OF MOLECULAR BIOLOGY (2017)
Mll3 and Mll4 Facilitate Enhancer RNA Synthesis and Transcription from Promoters Independently of H3K4 Monomethylation
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
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Structural basis for activity regulation of MLL family methyltransferases
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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
Peter M. Van Laarhoven et al.
HUMAN MOLECULAR GENETICS (2015)
GSDS 2.0: an upgraded gene feature visualization server
Bo Hu et al.
BIOINFORMATICS (2015)
The COMPASS Family of Histone H3K4 Methylases: Mechanisms of Regulation in Development and Disease Pathogenesis
Ali Shilatifard
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 81 (2012)