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Journal of Pediatric Genetics|February 8, 2021
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki SyndromeValentina Bruni, Cristina Scozzafava, Maria Gnazzo, et al.
Cytogenetic and Genome Research|May 30, 2019
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the LiteratureValentina Bruni, Katia Roppa, Francesca Scionti, et al.
Frontiers in Pediatrics|January 8, 2021
The Role of Prebiotics and Probiotics in Prevention of Allergic Diseases in InfantsSimona Sestito, Enza D'Auria, Maria Elisabetta Baldassarre, et al.
European Journal of Medical Genetics|May 14, 2018
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblingsDaniela Concolino, Simona Sestito, Francesca Falvo, et al.
BMC Pediatrics|May 19, 2010
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case reportDaniela Concolino, Maria Rapsomaniki, Eliana Disabella, et al.
Genes|June 28, 2023
7p22.2 Microduplication: A Pathogenic CNV?Alessia Bauleo, Alberto Montesanto, Vincenza Pace, et al.
Nutrients|November 27, 2021
Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with PhenylketonuriaIris Scala, Daniela Concolino, Anna Nastasi, et al.
Nutrition and Health|April 23, 2024
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuriaSimona Sestito, Lucia Brodosi, Stefania Ferraro, et al.
Expert Opinion on Therapeutic Patents|March 22, 2019
A patent update on PDK1 inhibitors (2015-present)Simona Sestito, Simona Rapposelli
Biomed Research International|July 11, 2013
Urine bikunin as a marker of renal impairment in Fabry's diseaseAntonio Junior Lepedda, Laura Fancellu, Elisabetta Zinellu, et al.
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