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Human Mutation|May 6, 2008
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligenceSamia A Temtamy, Mona S Aglan, Maria Valencia, et al.
Scientific Reports|February 25, 2022
A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypesChiara Locatelli, Sara Onnivello, Caterina Gori, et al.
Reproductive Toxicology (Elmsford, N.Y.)|March 30, 2010
Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and researchAlessandra Lisi, Lorenzo D Botto, Elisabeth Robert-Gnansia, et al.
European Journal of Medical Genetics|November 24, 2015
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndromeAlessandro Mussa, Stefania Di Candia, Silvia Russo, et al.
Scientific Reports|June 28, 2020
Plasma metabolome and cognitive skills in Down syndromeFrancesca Antonaros, Veronica Ghini, Francesca Pulina, et al.
American Journal of Medical Genetics. Part A|August 19, 2004
Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?Hester Y Kroes, Richard S Olney, Aldo Rosano, et al.
Italian Journal of Pediatrics|June 30, 2009
Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological studyPaolo Ghirri, Rosa T Scaramuzzo, Silvano Bertelloni, et al.
Scientific Reports|February 20, 2021
One-carbon pathway and cognitive skills in children with Down syndromeFrancesca Antonaros, Silvia Lanfranchi, Chiara Locatelli, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
Brain Sciences|June 2, 2021
Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?Chiara Locatelli, Sara Onnivello, Francesca Antonaros, et al.
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