about
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.Of mice and men: molecular genetics of congenital heart diseaseWhat Is New in Genetics of Congenital Heart Defects?Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeCHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome.KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation.Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.Novel loci for non-syndromic coarctation of the aorta in sporadic and familial casesThe strong association of left-side heart anomalies with Kabuki syndromeKabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.Widespread DNA hypomethylation and differential gene expression in Turner syndrome.Kabuki syndrome revisited.Kabuki syndrome: clinical and molecular diagnosis in the first year of life.Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature.Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.Kabuki syndrome: a case report.Further delineation of Kabuki syndrome in 48 well-defined new individuals.Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.Dental findings in Kabuki make-up syndrome: a case report.Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement.What syndrome is this? Kabuki make-up syndrome.The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.Neonatal phenotype in Kabuki syndrome.Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.Congenital heart defects in molecularly proven Kabuki syndrome patients.Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.Body proportions in children with Kabuki syndrome.Isolated double-orifice mitral valve in a young girl.
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Congenital heart defects in Kabuki syndrome.
@ast
Congenital heart defects in Kabuki syndrome.
@en
Congenital heart defects in Kabuki syndrome.
@nl
type
label
Congenital heart defects in Kabuki syndrome.
@ast
Congenital heart defects in Kabuki syndrome.
@en
Congenital heart defects in Kabuki syndrome.
@nl
prefLabel
Congenital heart defects in Kabuki syndrome.
@ast
Congenital heart defects in Kabuki syndrome.
@en
Congenital heart defects in Kabuki syndrome.
@nl
P2093
P2860
P356
P1476
Congenital heart defects in Kabuki syndrome.
@en
P2093
P2860
P304
P356
10.1002/AJMG.1265
P577
2001-05-01T00:00:00Z