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Page 1
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967.
Genes (Basel). 2019.
PMID: 31775249
Free PMC article.
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Sofia VM, Surace C, Terlizzi V, Da Sacco L, Alghisi F, Angiolillo A, Braggion C, Cirilli N, Colombo C, Di Lullo A, Padoan R, Quattrucci S, Raia V, Tuccio G, Zarrilli F, Tomaiuolo AC, Novelli A, Lucidi V, Lucarelli M, Castaldo G, Angioni A.
Sofia VM, et al.
Mol Med. 2018 Jul 27;24(1):38. doi: 10.1186/s10020-018-0041-6.
Mol Med. 2018.
PMID: 30134826
Free PMC article.
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Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Terlizzi V, Castaldo G, Salvatore D, Lucarelli M, Raia V, Angioni A, Carnovale V, Cirilli N, Casciaro R, Colombo C, Di Lullo AM, Elce A, Iacotucci P, Comegna M, Scorza M, Lucidi V, Perfetti A, Cimino R, Quattrucci S, Seia M, Sofia VM, Zarrilli F, Amato F.
Terlizzi V, et al. Among authors: sofia vm.
J Med Genet. 2017 Apr;54(4):224-235. doi: 10.1136/jmedgenet-2016-103985. Epub 2016 Oct 13.
J Med Genet. 2017.
PMID: 27738188
Free article.
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Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Sofia VM, Da Sacco L, Surace C, Tomaiuolo AC, Genovese S, Grotta S, Gnazzo M, Ciocca L, Petrocchi S, Alghisi F, Montemitro E, Martemucci L, Elce A, Lucidi V, Castaldo G, Angioni A.
Sofia VM, et al.
Mol Med. 2016 Sep;22:300-309. doi: 10.2119/molmed.2016.00010. Epub 2016 May 26.
Mol Med. 2016.
PMID: 27264265
Free PMC article.
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