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Page 1
Monitoring equity in the delivery of health services: a Delphi process to select healthcare equity indicators.
Buclin CP, Doninelli M, Bertini L, Bodenmann P, Cullati S, Chiolero A, Degiorgi A, Gemperli A, Hugli O, Jachmann A, Jackson Y, Marti J, Morisod K, Obas KA, Rüter F, Safford J, Sanchis-Zozaya J, Schick M, Giuliani F, Courvoisier DS. Buclin CP, et al. Among authors: degiorgi a. Swiss Med Wkly. 2024 Oct 3;154:3714. doi: 10.57187/s.3714. Swiss Med Wkly. 2024. PMID: 39463419 Free article.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: degiorgi a. J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340. J Med Genet. 2023. PMID: 37734847 Free PMC article.
Change in staff perspectives on indwelling urinary catheter use after implementation of an intervention bundle in seven Swiss acute care hospitals: results of a before/after survey study.
Niederhauser A, Züllig S, Marschall J, Schweiger A, John G, Kuster SP, Schwappach DL; progress! Safe Urinary Catheterization Collaboration Group; progress! Safe urinary catheterization collaboration group. Niederhauser A, et al. BMJ Open. 2019 Oct 28;9(10):e028740. doi: 10.1136/bmjopen-2018-028740. BMJ Open. 2019. PMID: 31662357 Free PMC article.
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.
Hoyos-Gonzalez N, Trasviña-Arenas CH, Degiorgi A, Castro-Lara AY, Peralta-Castro A, Jimenez-Sandoval P, Diaz-Quezada C, Lodi T, Baruffini E, Brieba LG. Hoyos-Gonzalez N, et al. Among authors: degiorgi a. Biochim Biophys Acta Gen Subj. 2020 Jul;1864(7):129608. doi: 10.1016/j.bbagen.2020.129608. Epub 2020 Mar 29. Biochim Biophys Acta Gen Subj. 2020. PMID: 32234506
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, Whitworth AJ, Zeviani M. Benincá C, et al. Among authors: degiorgi a. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439808 Free PMC article.