about
Kabuki syndrome: clinical and molecular characteristicsThe epigenetic basis of diffuse large B-cell lymphomaCHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Epigenetic control of the immune system: a lesson from Kabuki syndrome.Carotid artery occlusion in Kabuki syndrome: Case report and literature review.A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexesMolecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.Spinal ependymoma in a patient with Kabuki syndrome: a case report.Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and TreatmentDisrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.Survey of healthcare experiences of Australian adults living with rare diseasesNovel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Zebrafish models of orofacial clefts.CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Enhancer deregulation in cancer and other diseases.Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.Toward development of epigenetic drugs for central nervous system disorders: Modulating neuroplasticity via H3K4 methylation.Epigenetic Mistakes in Neurodevelopmental Disorders.Histone Lysine Methylation and Neurodevelopmental Disorders.Histone H3 lysine 4 methyltransferase KMT2D.Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.CHARGE and Kabuki syndromes: a phenotypic and molecular link.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.Neurobehavioral features in individuals with Kabuki syndrome.The Many Faces of Rap1 GTPase
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Unmasking Kabuki syndrome.
@ast
Unmasking Kabuki syndrome.
@en
Unmasking Kabuki syndrome.
@nl
type
label
Unmasking Kabuki syndrome.
@ast
Unmasking Kabuki syndrome.
@en
Unmasking Kabuki syndrome.
@nl
prefLabel
Unmasking Kabuki syndrome.
@ast
Unmasking Kabuki syndrome.
@en
Unmasking Kabuki syndrome.
@nl
P2860
P356
P1433
P1476
Unmasking Kabuki syndrome.
@en
P2093
N Bögershausen
P2860
P304
P356
10.1111/CGE.12051
P577
2012-11-26T00:00:00Z