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American Journal of Medical Genetics. Part A|December 13, 2007
Descriptive epidemiology of Cornelia de Lange syndrome in EuropeIngeborg Barisic, Visnja Tokic, Maria Loane, et al.
Archives of Disease in Childhood|November 2, 2017
Comparative analysis of the scope of European Union paediatric investigation plans with corresponding orphan designationsAndrea Ecker, Segundo Mariz, Frauke Naumann-Winter, et al.
Public Health Genomics|March 21, 2015
Primary prevention of congenital anomalies: recommendable, feasible and achievableDomenica Taruscio, Alberto Mantovani, Pietro Carbone, et al.
The New England Journal of Medicine|June 19, 2010
Valproic acid monotherapy in pregnancy and major congenital malformationsJanneke Jentink, Maria A Loane, Helen Dolk, et al.
The Journal of Steroid Biochemistry and Molecular Biology|April 5, 2016
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in CroatiaKatja K Dumic, Zorana Grubic, Tony Yuen, et al.
BMJ Open|June 29, 2021
EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomaliesJoan K Morris, Ester Garne, Maria Loane, et al.
European Journal of Medical Genetics|May 14, 2018
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in EuropeIngeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, et al.
The Journal of Pediatrics|July 20, 2023
Severe Congenital Heart Defects and Cerebral PalsyEster Garne, Shona Goldsmith, Ingeborg Barisic, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|June 24, 2019
Methadone, Pierre Robin sequence and other congenital anomalies: case-control studyBrian Cleary, Maria Loane, Marie-Claude Addor, et al.
Orphanet Journal of Rare Diseases|February 18, 2025
Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort studyMichele Santoro, Ingeborg Barisic, Alessio Coi, et al.
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