Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
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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
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 05 September 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of a methylatio ...... axia, deafness, and narcolepsy
@en
Identification of a methylatio ...... xia, deafness, and narcolepsy.
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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
P2093
P2860
P1433
P1476
Identification of a methylatio ...... axia, deafness, and narcolepsy
@en
P2093
Amanda Smith
Bekim Sadikovic
Care4Rare Canada Consortium
Kristin D Kernohan
Kym M Boycott
Laila Cigana Schenkel
Lijia Huang
Peter Ainsworth
P2860
P2888
P356
10.1186/S13148-016-0254-X
P577
2016-09-05T00:00:00Z
P6179
1033897112