20092019

Research output per year

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Research Output

A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis

Paolacci, S., Faletra, F., Maltese, P. E., Quadrifoglio, M. & Bertelli, M., Nov 2019, In : Congenital Anomalies. 59, 6, p. 197-198 2 p.

Research output: Contribution to journalArticle

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

Bottega, R., Cappellani, S., Fabretto, A., Spinelli, A. M., Severini, G. M., Aloisio, M., Faleschini, M., Athanasakis, E., Bruno, I., Faletra, F. & Pecile, V., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e546.

Research output: Contribution to journalLetter

Open Access

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report∗

Costa, P., Zanus, C., Faletra, F., Ventura, G., di Marzio, G. M., Cervesi, C. & Carrozzi, M., Oct 1 2019, In : Epileptic Disorders. 21, 5, p. 466-470 5 p.

Research output: Contribution to journalArticle

  • Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes

    Piscianz, E., Conversano, E., Bianco, A. M., Faletra, F., Tommasini, A. & Valencic, E., Nov 1 2019, In : Inflammation Research. 68, 11, p. 901-904 4 p.

    Research output: Contribution to journalLetter

  • Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

    Bottega, R., Perrone, M. D., Vecchiato, K., Taddio, A., Sabui, S., Pecile, V., Said, H. M. & Faletra, F., Nov 1 2019, In : Journal of Human Genetics. 64, 11, p. 1075-1081 7 p.

    Research output: Contribution to journalArticle