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Page 1
Altered Bone Status in Rett Syndrome.
Pecorelli A, Cordone V, Schiavone ML, Caffarelli C, Cervellati C, Cerbone G, Gonnelli S, Hayek J, Valacchi G. Pecorelli A, et al. Among authors: cerbone g. Life (Basel). 2021 Jun 3;11(6):521. doi: 10.3390/life11060521. Life (Basel). 2021. PMID: 34205017 Free PMC article. Review.
Flavor perception test: evaluation in patients with Kallmann syndrome.
Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A. Maione L, et al. Among authors: cerbone g. Endocrine. 2016 May;52(2):236-43. doi: 10.1007/s12020-015-0690-y. Epub 2015 Jul 25. Endocrine. 2016. PMID: 26209039 Clinical Trial.
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study; Devriendt K, Breckpot J. Verheije R, et al. Among authors: cerbone g. Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291340 Free PMC article.
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P; Campania Rare Disease Network. Limongelli G, et al. J Public Health (Oxf). 2022 Aug 25;44(3):586-594. doi: 10.1093/pubmed/fdab137. J Public Health (Oxf). 2022. PMID: 33982102 Free PMC article.