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209 results

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Page 1
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: driessen g. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Saliva as a sampling matrix for therapeutic drug monitoring of gentamicin in neonates: A prospective population pharmacokinetic and simulation study.
Samb A, Kruizinga M, Tallahi Y, van Esdonk M, van Heel W, Driessen G, Bijleveld Y, Stuurman R, Cohen A, van Kaam A, de Haan TR, Mathôt R. Samb A, et al. Among authors: driessen g. Br J Clin Pharmacol. 2022 Feb;88(4):1845-1855. doi: 10.1111/bcp.15105. Epub 2021 Nov 7. Br J Clin Pharmacol. 2022. PMID: 34625981 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
Trends in Mortality in People With HIV From 1999 through 2020: A Multicohort Collaboration.
Tusch E, Ryom L, Pelchen-Matthews A, Mocroft A, Elbirt D, Oprea C, Günthard HF, Staehelin C, Zangerle R, Suarez I, Vehreschild JJ, Wit F, Menozzi M, d'Arminio Monforte A, Spagnuolo V, Pradier C, Carlander C, Suanzes P, Wasmuth JC, Carr A, Petoumenos K, Borgans F, Bonnet F, De Wit S, El-Sadr W, Neesgaard B, Jaschinski N, Greenberg L, Hosein SR, Gallant J, Vannappagari V, Young L, Sabin C, Lundgren J, Peters L, Reekie J; D:A:D cohort study; RESPOND cohort study. Tusch E, et al. Clin Infect Dis. 2024 Nov 22;79(5):1242-1257. doi: 10.1093/cid/ciae228. Clin Infect Dis. 2024. PMID: 38663013
Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study.
Schlapbach LJ, Ganesamoorthy D, Wilson C, Raman S, George S, Snelling PJ, Phillips N, Irwin A, Sharp N, Le Marsney R, Chavan A, Hempenstall A, Bialasiewicz S, MacDonald AD, Grimwood K, Kling JC, McPherson SJ, Blumenthal A, Kaforou M, Levin M, Herberg JA, Gibbons KS, Coin LJM; EUCLIDS consortium; RAPIDS Study Group. Schlapbach LJ, et al. Lancet Child Adolesc Health. 2024 May;8(5):325-338. doi: 10.1016/S2352-4642(24)00017-8. Epub 2024 Mar 19. Lancet Child Adolesc Health. 2024. PMID: 38513681 Free article.
Infant Ustekinumab Clearance, Risk of Infection, and Development After Exposure During Pregnancy.
Julsgaard M, Wieringa JW, Baunwall SMD, Bibby BM, Driessen GJA, Kievit L, Brodersen JB, Poulsen A, Kjeldsen J, Hansen MM, Tang HQ, Balmer CL, Glerup H, Seidelin JB, Haderslev KV, Svenningsen L, Wildt S, Juel MA, Neumann A, Fuglsang J, Jess T, Haase AM, Hvas CL, Kelsen J, Janneke van der Woude C; NEXUS Collaborator Group. Julsgaard M, et al. Among authors: driessen gja. Clin Gastroenterol Hepatol. 2025 Jan;23(1):134-143. doi: 10.1016/j.cgh.2024.01.008. Epub 2024 Jan 24. Clin Gastroenterol Hepatol. 2025. PMID: 38278191 Free article.
Year-Round Respiratory Syncytial Virus Transmission in The Netherlands Following the COVID-19 Pandemic: A Prospective Nationwide Observational and Modeling Study.
Löwensteyn YN, Zheng Z, Rave N, Bannier MAGE, Billard MN, Casalegno JS, Pitzer VE, Wildenbeest JG, Weinberger DM, Bont L; Surveillance of Pediatric REspiratory Admissions in Dutch hospitals (SPREAD) Study Group. Löwensteyn YN, et al. J Infect Dis. 2023 Nov 11;228(10):1394-1399. doi: 10.1093/infdis/jiad282. J Infect Dis. 2023. PMID: 37477906 Free PMC article.
209 results