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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: sommer ak. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
[Treatment of geriatric odontoid fractures].
Sommer A, Klein L, Obid P. Sommer A, et al. Unfallchirurgie (Heidelb). 2025 Jan 15. doi: 10.1007/s00113-024-01522-1. Online ahead of print. Unfallchirurgie (Heidelb). 2025. PMID: 39814944 Review. German.
[Alternative care concepts for low-acuity emergency medical service missions in the German ambulance service: Descriptive results of an online survey].
Lubasch JS, Beierle S, Marewski VS, Rehbock C, Thate S, Schröder H, Beckers SK, Sommer A, Seeger I. Lubasch JS, et al. Among authors: sommer a. Z Evid Fortbild Qual Gesundhwes. 2024 Dec;190-191:92-100. doi: 10.1016/j.zefq.2024.07.008. Epub 2024 Nov 22. Z Evid Fortbild Qual Gesundhwes. 2024. PMID: 39578212 Free article. German.
1,132 results