Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

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http://www.wikidata.org/entity/Q37233136
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.The defining DNA methylation signature of Floating-Harbor Syndrome.Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.The role of the clinician in the multi-omics era: are you ready?Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues.DNMT1 and DNMT3A haplotypes associated with noise-induced hearing loss in Chinese workersBAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Item
http://www.wikidata.org/entity/Q37233136
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 05 September 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Identification of a methylatio ...... axia, deafness, and narcolepsy
@en
Identification of a methylatio ...... xia, deafness, and narcolepsy.
@nl
type
label
Identification of a methylatio ...... axia, deafness, and narcolepsy
@en
Identification of a methylatio ...... xia, deafness, and narcolepsy.
@nl
prefLabel
Identification of a methylatio ...... axia, deafness, and narcolepsy
@en
Identification of a methylatio ...... xia, deafness, and narcolepsy.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P6179
P698
P921
P932
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P1433
P1476
Identification of a methylatio ...... axia, deafness, and narcolepsy
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P6179
P698
P921
P932