Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Item
http://www.wikidata.org/entity/Q50504852
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature ReviewUnraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.Kdm6a overexpression improves the development of cloned mouse embryos.UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.Congenital heart defects in molecularly proven Kabuki syndrome patients.Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.
P2860

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Item
http://www.wikidata.org/entity/Q50504852
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
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2016年學術文章
@zh-hant
name
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@en
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@nl
type
label
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@en
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@nl
prefLabel
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@en
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@nl
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P1476
P2093
P2860
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P1433
P1476
Mutation Update for Kabuki Syn ...... ked Kabuki Syndrome Subtype 2.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698