about
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsStructural and numerical changes of chromosome X in patients with esophageal atresiaSmall noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.Genetics of enteric neuropathies.More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.Increased incidence of hypertrophic pyloric stenosis in esophageal atresia patients.Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.SNPitty: An intuitive web-application for interactive B-allele frequency and copy-number visualization of next-generation sequencing data.Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.Nimbus: a design-driven analyses suite for amplicon-based NGS dataExome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL associationDo RET somatic mutations play a role in Hirschsprung disease?A combined literature and in silico analysis enlightens the role of the NDRG family in the gutNeuronal Development and Onset of Electrical Activity in the Human Enteric Nervous SystemInfantile hypertrophic pyloric stenosis in patients with esophageal atresia
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Erwin Brosens
@ast
Erwin Brosens
@en
Erwin Brosens
@es
Erwin Brosens
@nl
Erwin Brosens
@sl
type
label
Erwin Brosens
@ast
Erwin Brosens
@en
Erwin Brosens
@es
Erwin Brosens
@nl
Erwin Brosens
@sl
prefLabel
Erwin Brosens
@ast
Erwin Brosens
@en
Erwin Brosens
@es
Erwin Brosens
@nl
Erwin Brosens
@sl
P106
P1153
54082709900
P21
P2798
P31
P496
0000-0001-8235-4010