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Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: el hachem m. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
Preemptive liver transplantation in a child with familial hypercholesterolemia.
Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A. Maiorana A, et al. Among authors: el hachem m. Pediatr Transplant. 2011 Mar;15(2):E25-9. doi: 10.1111/j.1399-3046.2010.01383.x. Epub 2010 Sep 15. Pediatr Transplant. 2011. PMID: 20846238 Review.
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C. Martinelli D, et al. Among authors: el hachem m. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Brain. 2013. PMID: 23423674
Relapsing polychondritis: new therapeutic strategies with biological agents.
Buonuomo PS, Bracaglia C, Campana A, El Hachem M, Diociaiuti A, Insalaco A, De Benedetti F, Testa BC, Cortis E, De Vincentiis GC, Ugazio AG. Buonuomo PS, et al. Among authors: el hachem m. Rheumatol Int. 2010 Mar;30(5):691-3. doi: 10.1007/s00296-009-0981-9. Epub 2009 Aug 15. Rheumatol Int. 2010. PMID: 19685056
Lipoid proteinosis: case report and review of the literature.
Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM. Di Giandomenico S, et al. Among authors: el hachem m. Acta Otorhinolaryngol Ital. 2006 Jun;26(3):162-7. Acta Otorhinolaryngol Ital. 2006. PMID: 17063986 Free PMC article. Review.
Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation.
Diociaiuti A, D'Amico P, Pisaneschi E, Giancristoforo S, Pappalardo MG, Di Guardo V, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: el hachem m. J Eur Acad Dermatol Venereol. 2019 Mar;33(3):e139-e140. doi: 10.1111/jdv.15351. Epub 2018 Dec 7. J Eur Acad Dermatol Venereol. 2019. PMID: 30461078 No abstract available.
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
Bodemer C, Diociaiuti A, Hadj-Rabia S, Robert MP, Desguerre I, Manière MC, de la Dure-Molla M, De Liso P, Federici M, Galeotti A, Fusco F, Fraitag S, Demily C, Taieb C, Valeria Ursini M, El Hachem M, Steffann J. Bodemer C, et al. Among authors: el hachem m. J Eur Acad Dermatol Venereol. 2020 Jul;34(7):1415-1424. doi: 10.1111/jdv.16403. J Eur Acad Dermatol Venereol. 2020. PMID: 32678511 Review.
Epidermolysis Bullosa in children: the central role of the pediatrician.
Marchili MR, Spina G, Roversi M, Mascolo C, Pentimalli E, Corbeddu M, Diociaiuti A, El Hachem M, Villani A. Marchili MR, et al. Among authors: el hachem m. Orphanet J Rare Dis. 2022 Apr 4;17(1):147. doi: 10.1186/s13023-021-02144-1. Orphanet J Rare Dis. 2022. PMID: 35379269 Free PMC article.
180 results