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Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|August 23, 2021
Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1Silvio Polizzi, Roberto Caputo, Flavio Faletra, et al.Italian Journal of Pediatrics|June 12, 2020
An unusual diagnosis for an usual testAndrea Trombetta, Vanessa Migliarino, Flavio Faletra, et al.European Journal of Medical Genetics|November 13, 2012
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchismMaria Santa Rocca, Flavio Faletra, Raffaella Devescovi, et al.Ophthalmic Genetics|May 11, 2010
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutationAntonella Fabretto, Alison Shardlow, Flavio Faletra, et al.Acta Paediatrica (Oslo, Norway : 1992)|September 6, 2012
A red baby should not be taken too lightlyFlavio Faletra, Irene Bruno, Irene Berti, et al.Journal of Human Genetics|March 2, 2012
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elementsPaola Fortugno, Fabiana Grosso, Giovanna Zambruno, et al.Inflammation Research : Official Journal of the European Histamine Research Society ... [Et Al.]|August 31, 2019
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytesElisa Piscianz, Ester Conversano, Anna Monica Bianco, et al.Gene|November 12, 2013
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing lossFlavio Faletra, Giorgia Girotto, Adamo Pio D'Adamo, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|October 16, 2020
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutationCaterina Zanus, Paola Costa, Flavio Faletra, et al.Gene|May 20, 2014
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfectaElisa Rubinato, Anna Morgan, Angela D'Eustacchio, et al.Pageof 10