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Integrated Geophysics and Geomatics Surveys in the Valley of the Kings.
Porcelli F, Sambuelli L, Comina C, Spanò A, Lingua A, Calantropio A, Catanzariti G, Chiabrando F, Fischanger F, Maschio P, Ellaithy A, Airoldi G, De Ruvo V. Porcelli F, et al. Among authors: spano a. Sensors (Basel). 2020 Mar 11;20(6):1552. doi: 10.3390/s20061552. Sensors (Basel). 2020. PMID: 32168983 Free PMC article.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: spano a. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: spano a. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Body CT examinations in oncologic patients: the impact of subspecialty radiology on radiation exposure in the clinical practice. A quality care study.
Rizzo S, Bellesi L, D'Ermo A, Bonomo L, D'Ecclesiis O, Magoga F, Presilla S, Spanò A, Minzolini V, Lo Piccolo F, Heinkel J, Rezzonico E, Del Grande M, Merli M, Del Grande F. Rizzo S, et al. Among authors: spano a. Radiol Med. 2024 Mar;129(3):429-438. doi: 10.1007/s11547-024-01790-2. Epub 2024 Feb 11. Radiol Med. 2024. PMID: 38341817 Free PMC article.
216 results