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Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

artículo científico publicado en 2018

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

artículo científico publicado en 2017

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

artículo científico publicado en 2015

Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.

artículo científico publicado en 2015

Drugs use in pregnancy in the Valencia Region and the risk of congenital anomalies

artículo científico publicado en 2016

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

scientific article published on 12 July 2019

Epidemiology of Imperfect Osteogenesis: a Rare Disease in the Valencia Region

artículo científico publicado en 2017

Epidemiology of achondroplasia: A population-based study in Europe

artículo científico publicado en 2019

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

artículo científico publicado en 2019

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

scholarly article by Ester Garne et al published September 2018 in European Journal of Medical Genetics

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study

artículo científico publicado en 2019

Fetal Exposure to Montelukast and Congenital Anomalies: A Population Based Study in Denmark

scientific article published on 01 March 2017

Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors

artículo científico

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

scientific article published on 22 April 2020

Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators

artículo científico publicado en 2020

Prescription of cardiovascular medication in children with congenital heart defects across six European Regions from 2000 to 2014: data from the EUROlinkCAT population-based cohort study

artículo científico publicado en 2022

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

scientific article published on 09 September 2019

The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study

artículo científico publicado en 2016

The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases

artículo científico publicado en 2021

Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study

artículo científico publicado en 2021

[An open heart: experiences of the parents of children with congenital heart disease].

artículo científico publicado en 2015

[Congenital heart defects in the Valencian Community 2007-2014: The Population-Based Registry Of Congenital Anomalies]

artículo científico publicado en 2019

[The validity of the Spanish Minimum Basic Data Set to identify congenital anomalies in the Valencian Community (Spain)].

artículo científico publicado en 2016

[Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries]

scientific article published on 30 September 2020

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