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Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: prada e. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
Sensing of Continuum Robots: A Review.
Sincak PJ, Prada E, Miková Ľ, Mykhailyshyn R, Varga M, Merva T, Virgala I. Sincak PJ, et al. Among authors: prada e. Sensors (Basel). 2024 Feb 18;24(4):1311. doi: 10.3390/s24041311. Sensors (Basel). 2024. PMID: 38400468 Free PMC article. Review.
Supercurrent mediated by helical edge modes in bilayer graphene.
Rout P, Papadopoulos N, Peñaranda F, Watanabe K, Taniguchi T, Prada E, San-Jose P, Goswami S. Rout P, et al. Among authors: prada e. Nat Commun. 2024 Jan 29;15(1):856. doi: 10.1038/s41467-024-44952-6. Nat Commun. 2024. PMID: 38287003 Free PMC article.
Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.
Mauri G, Gori V, Patelli G, Roazzi L, Rizzetto F, De Carlis L, Mariani A, Cavallari U, Prada E, Cipani T, Aquilano MC, Bonoldi E, Vanzulli A, Siena S, Sartore-Bianchi A. Mauri G, et al. Among authors: prada e. World J Surg Oncol. 2023 Mar 31;21(1):118. doi: 10.1186/s12957-023-02976-0. World J Surg Oncol. 2023. PMID: 36998040 Free PMC article.
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Luca M, Carli D, Cardaropoli S, Milani D, Cocchi G, Leoni C, Macchiaiolo M, Bartuli A, Tarani L, Melis D, Bontempo P, D'Elia G, Prada E, Vitale R, Grammegna A, Tannorella P, Sparago A, Pignata L, Riccio A, Russo S, Ferrero GB, Mussa A. Luca M, et al. Among authors: prada e. Cancers (Basel). 2023 Jan 26;15(3):773. doi: 10.3390/cancers15030773. Cancers (Basel). 2023. PMID: 36765732 Free PMC article.
Majorana-like Coulomb spectroscopy in the absence of zero-bias peaks.
Valentini M, Borovkov M, Prada E, Martí-Sánchez S, Botifoll M, Hofmann A, Arbiol J, Aguado R, San-Jose P, Katsaros G. Valentini M, et al. Among authors: prada e. Nature. 2022 Dec;612(7940):442-447. doi: 10.1038/s41586-022-05382-w. Epub 2022 Dec 14. Nature. 2022. PMID: 36517713
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: prada e. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368
80 results