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Biomedicines|January 21, 2022
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing LossAnna Morgan, Flavio Faletra, Giulia Severi, et al.
European Journal of Medical Genetics|May 20, 2009
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 geneDaniela De Rocco, Nuria Pujol-Moix, Alessandro Pecci, et al.
American Journal of Medical Genetics. Part A|April 16, 2017
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literatureLaura Travan, Samuele Naviglio, Angela De Cunto, et al.
Clinical Case Reports|October 20, 2025
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 VariantCatia Mio, Maria Orsaria, Alessandra Franzoni, et al.
Journal of Human Genetics|September 12, 2019
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4Roberta Bottega, Maria D Perrone, Katy Vecchiato, et al.
Frontiers in Immunology|December 10, 2025
From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndromeValentina Boz, Marianna Di Rosa, Alessia Pin, et al.
Italian Journal of Pediatrics|September 25, 2023
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literaturePierandrea Elefante, Beatrice Spedicati, Flavio Faletra, et al.
American Journal of Medical Genetics. Part A|December 1, 2020
Could the MED13 mutations manifest as a Kabuki-like syndrome?Laura De Nardi, Flavio Faletra, Adamo Pio D'Adamo, et al.
World Journal of Pediatrics : WJP|December 20, 2015
Genetic analysis of Italian patients with congenital tufting enteropathyMaria d'Apolito, Daniela Pisanelli, Flavio Faletra, et al.
Journal of Pediatric Hematology/Oncology|November 28, 2017
The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related LymphomaFederico Verzegnassi, Erica Valencic, Valentina Kiren, et al.
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