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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Lepri FR, et al. Among authors: dallapiccola b. Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082. Int J Mol Sci. 2017. PMID: 29283410 Free PMC article.
Familial postaxial acrofacial dysostosis syndrome.
Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B. Giannotti A, et al. Among authors: dallapiccola b. J Med Genet. 1992 Oct;29(10):752. doi: 10.1136/jmg.29.10.752. J Med Genet. 1992. PMID: 1433242 Free PMC article. No abstract available.
Radiographic findings in Wiedemann-Rautenstrauch syndrome.
Obregon MG, Bergami GL, Giannotti A, Digilio MC, Virgili Q, Guadagni AM, Pompei E, Dallapiccola B. Obregon MG, et al. Among authors: dallapiccola b. Pediatr Radiol. 1992;22(6):474-5. doi: 10.1007/BF02013521. Pediatr Radiol. 1992. PMID: 1437383
New case of Bartsocas-Papas syndrome surviving at 20 months.
Giannotti A, Digilio MC, Standoli L, Zama M, Dallapiccola B. Giannotti A, et al. Among authors: dallapiccola b. Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522. Am J Med Genet. 1992. PMID: 1632449
[Trisomy 18 associated with atrioventricular canal].
Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. G Ital Cardiol. 1991 Apr;21(4):433-5. G Ital Cardiol. 1991. PMID: 1936748 Italian.
Atrioventricular canal associated with trisomy 9.
Marino B, Digilio MC, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: dallapiccola b. Chest. 1989 Dec;96(6):1420-1. doi: 10.1378/chest.96.6.1420. Chest. 1989. PMID: 2582851
973 results