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Current Opinion in Pediatrics|July 18, 2018
Cardiovascular disease in Down syndromePaolo Versacci, Duccio Di Carlo, Maria C Digilio, et al.
Autism Research : Official Journal of the International Society for Autism Research|December 14, 2020
Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome StudyPaolo Alfieri, Francesco Scibelli, Maria C Digilio, et al.
Congenital Heart Disease|February 6, 2018
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteriesNelly Sabbaghian, Maria C Digilio, Gillian M Blue, et al.
Cardiology in the Young|March 7, 2012
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic motherMaria L Dentici, Silvia Placidi, Paola Francalanci, et al.
Molecular Genetics & Genomic Medicine|February 15, 2020
Defining language disorders in children and adolescents with Noonan SyndromeGiulia Lazzaro, Cristina Caciolo, Deny Menghini, et al.
Clinical Genetics|January 27, 2019
Expanding the clinical spectrum associated with PACS2 mutationsMaria L Dentici, Sabina Barresi, Marcello Niceta, et al.
The Annals of Thoracic Surgery|February 21, 2006
Genetic syndromes and outcome after surgical correction of tetralogy of FallotGuido Michielon, Bruno Marino, Roberto Formigari, et al.
Neuropediatrics|February 6, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous VariantsJacopo Sartorelli, Lorena Travaglini, Giacomo Garone, et al.
Cytogenetic and Genome Research|October 30, 2018
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated DisorderSara Loddo, Viola Alesi, Silvia Genovese, et al.
American Journal of Medical Genetics. Part A|August 2, 2019
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature reviewAnwar Baban, Nicole Olivini, Francesca Romana Lepri, et al.
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