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Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C. Xu L, et al. Among authors: di maria e. Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15. Am J Hum Genet. 2018. PMID: 30449416 Free PMC article.
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.
Viassolo V, Previtali SC, Schiatti E, Magnani G, Minetti C, Zara F, Grasso M, Dagna-Bricarelli F, Di Maria E. Viassolo V, et al. Among authors: di maria e. Clin Genet. 2008 Jul;74(1):54-60. doi: 10.1111/j.1399-0004.2008.00984.x. Epub 2008 Mar 12. Clin Genet. 2008. PMID: 18341608
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. Mandrile G, et al. Among authors: di maria e. Eur J Med Genet. 2013 Apr;56(4):216-21. doi: 10.1016/j.ejmg.2013.01.005. Epub 2013 Jan 26. Eur J Med Genet. 2013. PMID: 23357683 Free article.
19q13 microdeletion syndrome: Further refining the critical region.
Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. Forzano F, et al. Among authors: di iorgi n, di maria e. Eur J Med Genet. 2012 Jun;55(6-7):429-32. doi: 10.1016/j.ejmg.2012.03.002. Epub 2012 Apr 10. Eur J Med Genet. 2012. PMID: 22510526
How is genetic testing evaluated? A systematic review of the literature.
Pitini E, De Vito C, Marzuillo C, D'Andrea E, Rosso A, Federici A, Di Maria E, Villari P. Pitini E, et al. Among authors: di maria e. Eur J Hum Genet. 2018 May;26(5):605-615. doi: 10.1038/s41431-018-0095-5. Epub 2018 Feb 8. Eur J Hum Genet. 2018. PMID: 29422659 Free PMC article.
Mental function in males and females.
Ajmar F, Di Maria E, Padovani L. Ajmar F, et al. Among authors: di maria e. Am J Med Genet. 1999 Dec 15;88(6):593. doi: 10.1002/(sici)1096-8628(19991215)88:6<593::aid-ajmg1>3.0.co;2-j. Am J Med Genet. 1999. PMID: 10581472 No abstract available.
82 results