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Paediatric hospital antimicrobial guidelines: a national UK review.
Shears A, Hoskyns L, Flinders P, Conry R, McMaster P; UK-PAS Committee. Shears A, et al. Arch Dis Child. 2023 Nov;108(11):946-947. doi: 10.1136/archdischild-2023-325854. Epub 2023 Aug 27. Arch Dis Child. 2023. PMID: 37640430 No abstract available.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: vergano s. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Congenital Hypothyroidism: Screening and Management.
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE. Rose SR, et al. Pediatrics. 2023 Jan 1;151(1):e2022060419. doi: 10.1542/peds.2022-060419. Pediatrics. 2023. PMID: 36827523
Congenital Hypothyroidism: Screening and Management.
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE. Rose SR, et al. Pediatrics. 2023 Jan 1;151(1):e2022060420. doi: 10.1542/peds.2022-060420. Pediatrics. 2023. PMID: 36827521
Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.
van der Sluijs PJ, Vergano SA, Roeder ER, Jongmans MCJ, Santen GWE. van der Sluijs PJ, et al. Among authors: vergano sa. Eur J Med Genet. 2023 Feb;66(2):104694. doi: 10.1016/j.ejmg.2022.104694. Epub 2022 Dec 31. Eur J Med Genet. 2023. PMID: 36592690 No abstract available.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: vergano sa. Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21. Hum Mutat. 2022. PMID: 35904121
Health Supervision for Children and Adolescents With Down Syndrome.
Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Bull MJ, et al. Among authors: vergano sa. Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. Pediatrics. 2022. PMID: 35490285 No abstract available.
44 results