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Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Siano MA, Mandato C, Nazzaro L, Iannicelli G, Ciccarelli GP, Barretta F, Mazzaccara C, Ruoppolo M, Frisso G, Baldi C, Tartaglione S, Di Salle F, Melis D, Vajro P. Siano MA, et al. Among authors: melis d. Front Pediatr. 2021 May 10;9:672004. doi: 10.3389/fped.2021.672004. eCollection 2021. Front Pediatr. 2021. PMID: 34041209 Free PMC article.
Brain damage in glycogen storage disease type I.
Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Melis D, et al. J Pediatr. 2004 May;144(5):637-42. doi: 10.1016/j.jpeds.2004.02.033. J Pediatr. 2004. PMID: 15127000
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.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A, Rosano C, Pannone L, Pinna V, Assunto A, Motta M, Ugga L, Daniele P, Mandile R, Mariniello L, Siano MA, Santoro C, Piluso G, Martinelli S, Strisciuglio P, De Luca A, Tartaglia M, Melis D. D'Amico A, et al. Among authors: melis d. Clin Genet. 2021 Nov;100(5):563-572. doi: 10.1111/cge.14040. Epub 2021 Aug 17. Clin Genet. 2021. PMID: 34346503
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.
164 results