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210 results

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Page 1
Glycolytic activity and in vitro effect of the pyruvate kinase activator AG-946 in red blood cells from low-risk myelodysplastic syndromes patients: A proof-of-concept study.
Fattizzo B, Vercellati C, Marcello A, Patel P, Wind-Rotolo M, Pettine L, Bonanomi M, Gaglio D, Bortolotti M, Leoni C, Fermo E, Bianchi P, Zaninoni A, Passamonti F, Barcellini W. Fattizzo B, et al. Among authors: leoni c. Am J Hematol. 2024 Jun;99(6):1201-1204. doi: 10.1002/ajh.27300. Epub 2024 Apr 2. Am J Hematol. 2024. PMID: 38563490
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R. Trevisan V, et al. Among authors: leoni c. Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346. Genes (Basel). 2024. PMID: 38540405 Free PMC article. Review.
Datathons: fostering equitability in data reuse in ecology.
Datathon 2022 Consortium:; Jurburg SD, Álvarez Blanco MJ, Chatzinotas A, Kazem A, König-Ries B, Babin D, Smalla K, Cerecetto V, Fernandez-Gnecco G, Covacevich F, Viruel E, Bernaschina Y, Leoni C, Garaycochea S, Terra JA, Fresia P, Figuerola ELM, Wall LG, Covelli JM, Agnello AC, Nieto EE, Festa S, Dominici LE, Allegrini M, Zabaloy MC, Morales ME, Erijman L, Coniglio A, Cassán FD, Nievas S, Roldán DM, Menes R, Jauri PV, Marrero CS, Massa AM, Revetria MAM, Fernández-Scavino A, Pereira-Mora L, Martínez S, Frene JP. Datathon 2022 Consortium:, et al. Among authors: leoni c. Trends Microbiol. 2024 May;32(5):415-418. doi: 10.1016/j.tim.2024.02.010. Epub 2024 Mar 21. Trends Microbiol. 2024. PMID: 38519354 Free article. Review.
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.
Romeo DM, Pironi V, Velli C, Sforza E, Rigante D, Giorgio V, Leoni C, De Rose C, Kuczynska EM, Limongelli D, Ruiz R, Agazzi C, Mercuri E, Zampino G, Onesimo R. Romeo DM, et al. Among authors: leoni c. Eur J Med Genet. 2024 Apr;68:104930. doi: 10.1016/j.ejmg.2024.104930. Epub 2024 Feb 28. Eur J Med Genet. 2024. PMID: 38428804 Free article.
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association. Gazzin A, et al. Among authors: leoni c. Genes (Basel). 2023 Nov 27;14(12):2134. doi: 10.3390/genes14122134. Genes (Basel). 2023. PMID: 38136956 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: leoni c. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Evaluation of a quality improvement intervention to reduce anastomotic leak following right colectomy (EAGLE): pragmatic, batched stepped-wedge, cluster-randomized trial in 64 countries.
ESCP EAGLE Safe Anastomosis Collaborative and NIHR Global Health Research Unit in Surgery. ESCP EAGLE Safe Anastomosis Collaborative and NIHR Global Health Research Unit in Surgery. Br J Surg. 2024 Jan 3;111(1):znad370. doi: 10.1093/bjs/znad370. Br J Surg. 2024. PMID: 38029386 Free PMC article. Clinical Trial.
210 results