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Page 1
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF; DDD Study28. Copeland H, et al. Among authors: bertoli m. Genet Med Open. 2024 Oct 14;2:101864. doi: 10.1016/j.gimo.2024.101864. eCollection 2024. Genet Med Open. 2024. PMID: 39822267 Free PMC article.
Is a No-Restraint Policy Associated with Increased Aggression Towards Healthcare Professionals Among Inpatient Psychiatric Units? A 16-Year Retrospective Observational Study Conducted in Italy.
Colizzi M, Comacchio C, Garzitto M, Napoli G, Battiston C, Tam T, Bertoli M, Anzallo C, Palese A, Balestrieri M. Colizzi M, et al. Among authors: bertoli m. Nurs Rep. 2024 Dec 2;14(4):3779-3785. doi: 10.3390/nursrep14040276. Nurs Rep. 2024. PMID: 39728637 Free PMC article.
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy.
Elseed M, Sampson JN, Polvikoski T, Henderson M, Parkhurst Y, Bertoli M, Schiava M, Lofra RM, Moat D, Wong K, Michell-Sodhi J, Guglieri M, Straub V, Harris E, Marini-Bettolo C. Elseed M, et al. Among authors: bertoli m. Neuromuscul Disord. 2024 Dec 4;47:105258. doi: 10.1016/j.nmd.2024.105258. Online ahead of print. Neuromuscul Disord. 2024. PMID: 39709903
Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.
Ramakrishnan R, Mallinson C, Hardy S, Broughan J, Blyth M, Melis G, Franklin C, Hill M, Mellis R, Wu WH, Allen S, Chitty LS, Knight M; EXPRESS Clinical Outcomes Group. Ramakrishnan R, et al. Front Genet. 2024 Nov 6;15:1485306. doi: 10.3389/fgene.2024.1485306. eCollection 2024. Front Genet. 2024. PMID: 39568676 Free PMC article.
Influence of water chemistry and contaminant occurrence on the oxidative stress ecology of Cottus gobio in a high-mountain lake (Carnic Alps).
Pastorino P, Bertoli M, Caldaroni B, Giugliano R, Ciccotelli V, Vivaldi B, Squadrone S, Griglione A, Abete MC, Renzi M, Esposito G, Bozzetta E, Pizzul E, Barceló D, Prearo M, Elia AC. Pastorino P, et al. Among authors: bertoli m. Environ Res. 2025 Jan 1;264(Pt 1):120343. doi: 10.1016/j.envres.2024.120343. Epub 2024 Nov 9. Environ Res. 2025. PMID: 39528034
Decrease of haemoconcentration reliably detects hydrostatic pulmonary oedema in dyspnoeic patients in the emergency department - a machine learning approach.
Gavelli F, Castello LM, Monnet X, Azzolina D, Nerici I, Priora S, Via VG, Bertoli M, Foieni C, Beltrame M, Bellan M, Sainaghi PP, De Vita N, Patrucco F, Teboul JL, Avanzi GC. Gavelli F, et al. Among authors: bertoli m. Int J Emerg Med. 2024 Sep 5;17(1):114. doi: 10.1186/s12245-024-00698-y. Int J Emerg Med. 2024. PMID: 39237860 Free PMC article.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: bertoli m. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459
229 results