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8,659 results

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: thomas c. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
Scabies Infestations-Reply.
Thomas C, Castillo Valladares H, Chang AY. Thomas C, et al. JAMA. 2025 Jan 15. doi: 10.1001/jama.2024.25288. Online ahead of print. JAMA. 2025. PMID: 39813052 No abstract available.
Relationality and Ethics in MDMA-Assisted Therapy.
Beachy J, Hall W, Thomas C, Gorman I, C O'Donnell K. Beachy J, et al. Among authors: thomas c. Am J Bioeth. 2025 Jan;25(1):67-71. doi: 10.1080/15265161.2024.2433445. Epub 2025 Jan 13. Am J Bioeth. 2025. PMID: 39804303 Free article. No abstract available.
Severity of Impaired Oxygenation and Conservative Oxygenation Targets in Mechanically Ventilated Children: A Post Hoc Subgroup Analysis of the Oxy-PICU Trial of Conservative Oxygenation.
Ray S, Wiegand M, Gould DW, Harrison DA, Mouncey PR, Peters MJ; Oxy-PICU Investigators of the United Kingdom Paediatric Critical Care Society Study Group. Ray S, et al. Pediatr Crit Care Med. 2025 Jan 13. doi: 10.1097/PCC.0000000000003686. Online ahead of print. Pediatr Crit Care Med. 2025. PMID: 39803991
8,659 results