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Good cognitive performances in a child with Prader-Willi syndrome.
Nugnes R, Zito E, Mozzillo E, Camarca ME, Riccio MP, Terrone G, Melis D, Bravaccio C, Franzese A. Nugnes R, et al. Among authors: melis d. Ital J Pediatr. 2013 Nov 15;39:74. doi: 10.1186/1824-7288-39-74. Ital J Pediatr. 2013. PMID: 24238393 Free PMC article.
Type a niemann-pick disease. Description of three cases with delayed myelination.
D'Amico A, Sibilio M, Caranci F, Bartiromo F, Taurisano R, Balivo F, Melis D, Parenti G, Cirillo S, Elefante R, Brunetti A. D'Amico A, et al. Among authors: melis d. Neuroradiol J. 2008 Jun 3;21(3):309-15. doi: 10.1177/197140090802100303. Epub 2008 Jun 3. Neuroradiol J. 2008. PMID: 24256898
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A. Mozzillo E, et al. Among authors: melis d. Am J Med Genet A. 2016 Aug;170(8):2196-9. doi: 10.1002/ajmg.a.37770. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256967
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: melis d. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D. Di Candia F, et al. Among authors: melis d. Orphanet J Rare Dis. 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. Orphanet J Rare Dis. 2021. PMID: 34857025 Free PMC article.
169 results