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Italian Journal of Pediatrics|August 28, 2020
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic dietGianluca Tornese, Giuseppa Patti, Maria Chiara Pellegrin, et al.
Gene|November 9, 2011
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12Maria Santa Rocca, Antonella Fabretto, Flavio Faletra, et al.
International Journal of Cardiology|July 17, 2025
Prognostic role of genetic variants in recurrent pericarditisValentino Collini, Flavio Faletra, Francesco Venturelli, et al.
Ophthalmic Genetics|August 1, 2012
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian familyFlavio Faletra, Adamo Pio d'Adamo, Stefano Pensiero, et al.
Italian Journal of Pediatrics|June 6, 2022
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literatureFrancesco Baldo, Laura Morra, Agnese Feresin, et al.
American Journal of Medical Genetics. Part A|November 26, 2013
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 geneFlavio Faletra, Adamo P D'Adamo, Irene Bruno, et al.
Gene|August 31, 2013
PMM2-CDG: phenotype and genotype in four affected family membersBarbara Bortot, Dora Cosentini, Flavio Faletra, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|October 17, 2019
Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG reportPaola Costa, Caterina Zanus, Flavio Faletra, et al.
International Journal of Environmental Research and Public Health|May 14, 2022
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP RegistryDaniela Dibello, Lucio Torelli, Valentina Di Carlo, et al.
Molecular Medicine Reports|August 25, 2015
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome resultsAnna Monica Bianco, Flavio Faletra, Diego Vozzi, et al.
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