Daniela MELIS | Publications
Daniela MELIS Publications
| 2023 | |
| Articolo in rivista | |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia NATURE COMMUNICATIONS. Vol. 14. Pag.2026-2039 ISSN:2041-1723. | |
| Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C; Groves, Andrew K; Lupski, James R; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E | |
| Digital Object Identifier (DOI): 10.1038/s41467-023-37703-6 Codice identificativo ISI: WOS:001050507000149 Codice identificativo SCOPUS: 2-s2.0-85152272417 | |
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| 2023 | |
| Articolo in rivista | |
| Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia GENES & NUTRITION. Vol. 18. Pag.1-11 ISSN:1865-3499. | |
| Rossi, A.; Assunto, A.; Rosano, C.; Tucci, S.; Ruoppolo, M.; Caterino, M.; Pirozzi, F.; Strisciuglio, P.; Parenti, G.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1186/s12263-023-00729-y Codice identificativo ISI: WOS:001002671200001 Codice identificativo SCOPUS: 2-s2.0-85161330576 | |
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| 2023 | |
| Articolo in rivista | |
| Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development CANCERS. Vol. 15. Pag.773-780 ISSN:2072-6694. | |
| Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D'Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Digital Object Identifier (DOI): 10.3390/cancers15030773 Codice identificativo ISI: WOS:000929297000001 Codice identificativo SCOPUS: 2-s2.0-85147877719 | |
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272885Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
| 2023 | |
| Articolo in rivista | |
| Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants EUROPEAN JOURNAL OF HUMAN GENETICS. Pag.1-9 ISSN:1476-5438. | |
| Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco | |
| Digital Object Identifier (DOI): 10.1038/s41431-023-01351-7 Codice identificativo ISI: WOS:000968060600002 Codice identificativo SCOPUS: 2-s2.0-85152662993 | |
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