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Developmental Disabilities Research Reviews|July 19, 2008
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndromeAdriano Carotti, Maria Cristina Digilio, Gerardo Piacentini, et al.
Developmental Medicine and Child Neurology|October 5, 2022
Epilepsy in KBG syndromeMarina Auconi, Domenico Serino, Maria Cristina Digilio, et al.
Birth Defects Research|July 8, 2024
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case reportCarolina Putotto, Marco Masci, Monia Magliozzi, et al.
International Journal of Molecular Sciences|July 3, 2014
Mediterranean diet and health: food effects on gut microbiota and disease controlFederica Del Chierico, Pamela Vernocchi, Bruno Dallapiccola, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Genes|November 27, 2021
SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?Barbara Citoni, Maria Cristina Digilio, Rossella Capolino, et al.
European Journal of Medical Genetics|October 6, 2009
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivorsMaria Lisa Dentici, Francesco Brancati, Rita Mingarelli, et al.
Expert Review of Molecular Diagnostics|July 27, 2017
Congenital heart disease and genetic syndromes: new insights into molecular mechanismsGiulio Calcagni, Marta Unolt, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutationsAdriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, et al.
International Journal of Pediatric Otorhinolaryngology|December 12, 2017
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literaturePier Marco Bianchi, Alessandra Bianchi, Maria Cristina Digilio, et al.
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