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The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.
D'Argenio V, Esposito MV, Telese A, Precone V, Starnone F, Nunziato M, Cantiello P, Iorio M, Evangelista E, D'Aiuto M, Calabrese A, Frisso G, D'Aiuto G, Salvatore F. D'Argenio V, et al. Among authors: salvatore f. Clin Chim Acta. 2015 Jun 15;446:221-5. doi: 10.1016/j.cca.2015.03.045. Epub 2015 Apr 17. Clin Chim Acta. 2015. PMID: 25896959 Free article.
Haemophilia B: from molecular diagnosis to gene therapy.
Castaldo G, Nardiello P, Bellitti F, Santamaria R, Rocino A, Coppola A, di Minno G, Salvatore F. Castaldo G, et al. Among authors: salvatore f. Clin Chem Lab Med. 2003 Apr;41(4):445-51. doi: 10.1515/CCLM.2003.067. Clin Chem Lab Med. 2003. PMID: 12747585 Review.
Haemophilia A: molecular insights.
Castaldo G, D'Argenio V, Nardiello P, Zarrilli F, Sanna V, Rocino A, Coppola A, Di Minno G, Salvatore F. Castaldo G, et al. Among authors: salvatore f. Clin Chem Lab Med. 2007;45(4):450-61. doi: 10.1515/CCLM.2007.093. Clin Chem Lab Med. 2007. PMID: 17439320 Review.
A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort.
Carsana A, Frisso G, Intrieri M, Tremolaterra MR, Savarese G, Scapagnini G, Esposito G, Santoro L, Salvatore F. Carsana A, et al. Among authors: salvatore f. Front Biosci (Elite Ed). 2010 Jan 1;2(2):547-58. doi: 10.2741/e113. Front Biosci (Elite Ed). 2010. PMID: 20036901 Free article.
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F. Catanzano F, et al. Among authors: salvatore f. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S91-4. doi: 10.1007/s10545-009-9028-3. Epub 2010 Feb 16. J Inherit Metab Dis. 2010. PMID: 20157782 Free PMC article.
837 results