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Page 1
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: jackson a. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
The Management of Upper-Extremity Xylazine-Associated Wounds.
Johnsen P, Morway E, Jackson A, Buchner SH, Gentile P, Ilyas AM, Criner Woozley K. Johnsen P, et al. Among authors: jackson a. J Hand Surg Am. 2025 Jan 16:S0363-5023(24)00598-7. doi: 10.1016/j.jhsa.2024.11.017. Online ahead of print. J Hand Surg Am. 2025. PMID: 39818647
Blood culture bottle shortage mitigation efforts: analysis of impact on ordering and patient impact.
Doern CD, Whitman M, Doll M, Lavoie S, Friedel D, Bearman G, Kim J, Masters H, Roseff S, Willis J, Mercer R, Hill A, Feeser R, Dhindsa H, Petruzella F, Jackson A, Vitto M, Plauny J, Bryson A. Doern CD, et al. Among authors: jackson a. Antimicrob Steward Healthc Epidemiol. 2025 Jan 9;5(1):e6. doi: 10.1017/ash.2024.474. eCollection 2025. Antimicrob Steward Healthc Epidemiol. 2025. PMID: 39810856 Free PMC article.
5,203 results