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Italian Journal of Pediatrics|October 22, 2025
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp associationSilvia Russo, Donatella Milani, Camilla Meossi, et al.
BMJ Open|July 5, 2019
Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort studyMarian K Bakker, Jorieke E H Bergman, Sergey Krikov, et al.
Aging|February 22, 2015
Identification of a DNA methylation signature in blood cells from persons with Down SyndromeMaria Giulia Bacalini, Davide Gentilini, Alessio Boattini, et al.
BMJ (Clinical Research Ed.)|February 22, 2005
International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?Lorenzo D Botto, Alessandra Lisi, Elisabeth Robert-Gnansia, et al.
Clinical Genetics|July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniquesDiana Carli, Matteo Operti, Silvia Russo, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 1, 2010
International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnanciesGuido Cocchi, Silvia Gualdi, Caroline Bower, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|September 16, 2008
Preferential associations between oral clefts and other major congenital anomaliesMonica Rittler, Jorge S López-Camelo, Eduardo E Castilla, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literatureEva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literatureEva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
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