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Molecular basis of refractory constipation in children

The aim of the present study is to identify genes associated with functional constipation in a homogeneous subgroup of children responding to sacral neuromodulation by performing whole exome sequencing in both children and their parents and to…

Long term functional outcome, quality of life, and genetic factors in patients with a cloacal malformation

The primary objective to our study is assessing functional outcome, quality of life, and genetic mutations in patients with a cloacal malformation. Functional outcome:- Colorectal functiono Objective: assessing colorectal function through the use of…

Gastroschisis: identification of hereditary and nonhereditary risk factors

1. To assess the prevalence of structural, and dysmorphological abnormalities in a cohort of patients with gastroschisis.2. To identify possible candidate genes for gastroschisis by analysing the genes involved in copy number abnormalities in…

Parent-child relationship, cognitive development and social-emotional functioning in children with intestinal failure;(PICASsO-study = Pediatric Intestinal failure: Cognitive And Social-emotional Outcomes)

(1) To assess parent-child attachment and interaction in a cohort of children and adolescents known with IF and (a history of) home PN dependence, and (2) to assess cognitive development and social-emotional functioning in these children.