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195 results

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Page 1
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.
Ferrarini A, Xumerle L, Griggio F, Garonzi M, Cantaloni C, Centomo C, Vargas SM, Descombes P, Marquis J, Collino S, Franceschi C, Garagnani P, Salisbury BA, Harvey JM, Delledonne M. Ferrarini A, et al. Among authors: delledonne m. PLoS One. 2015 Jul 6;10(7):e0132180. doi: 10.1371/journal.pone.0132180. eCollection 2015. PLoS One. 2015. PMID: 26147798 Free PMC article.
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Badar S, et al. Among authors: delledonne m. Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304. Am J Hematol. 2016. PMID: 26799139 Free article.
Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases.
Giuliani C, Pirazzini C, Delledonne M, Xumerle L, Descombes P, Marquis J, Mengozzi G, Monti D, Bellizzi D, Passarino G, Luiselli D, Franceschi C, Garagnani P. Giuliani C, et al. Among authors: delledonne m. Mech Ageing Dev. 2017 Jul;165(Pt B):195-201. doi: 10.1016/j.mad.2017.02.007. Epub 2017 Feb 27. Mech Ageing Dev. 2017. PMID: 28242236 Review.
On site DNA barcoding by nanopore sequencing.
Menegon M, Cantaloni C, Rodriguez-Prieto A, Centomo C, Abdelfattah A, Rossato M, Bernardi M, Xumerle L, Loader S, Delledonne M. Menegon M, et al. Among authors: delledonne m. PLoS One. 2017 Oct 4;12(10):e0184741. doi: 10.1371/journal.pone.0184741. eCollection 2017. PLoS One. 2017. PMID: 28977016 Free PMC article.
Whole-genome sequencing and SNV genotyping of 'Nebbiolo' (Vitis vinifera L.) clones.
Gambino G, Dal Molin A, Boccacci P, Minio A, Chitarra W, Avanzato CG, Tononi P, Perrone I, Raimondi S, Schneider A, Pezzotti M, Mannini F, Gribaudo I, Delledonne M. Gambino G, et al. Among authors: delledonne m. Sci Rep. 2017 Dec 11;7(1):17294. doi: 10.1038/s41598-017-17405-y. Sci Rep. 2017. PMID: 29229917 Free PMC article.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. Among authors: delledonne m. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.
195 results