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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: cohen e. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
Social associations across species during nocturnal bird migration.
Van Doren BM, DeSimone JG, Firth JA, Hillemann F, Gayk Z, Cohen E, Farnsworth A. Van Doren BM, et al. Among authors: cohen e. Curr Biol. 2025 Jan 10:S0960-9822(24)01701-9. doi: 10.1016/j.cub.2024.12.033. Online ahead of print. Curr Biol. 2025. PMID: 39818216
Correction: Safety and Efficacy of Lumen‑Apposing Metal Stents for Management of Late Refractory Gastro‑jejunal Strictures in Patients with Roux‑en‑Y Gastric Bypass (with Video).
Agrawal R, Maan S, Méndez A, Haffar M, Cohen EM, Adekolu AA, Krafft M, Thakkar S, Singh S. Agrawal R, et al. Among authors: cohen em. Dig Dis Sci. 2025 Jan 13. doi: 10.1007/s10620-024-08827-6. Online ahead of print. Dig Dis Sci. 2025. PMID: 39806090 No abstract available.
Keratin 16 spatially inhibits type I interferon responses in stressed skin.
Cohen E, Xu Y, Orosco A, Wang D, Johnson CN, Steen K, Sarkar MK, Özlü N, Tsoi LC, Gudjonsson JE, Parent CA, Coulombe PA. Cohen E, et al. bioRxiv [Preprint]. 2024 Dec 27:2024.12.27.630544. doi: 10.1101/2024.12.27.630544. bioRxiv. 2024. PMID: 39763960 Free PMC article. Preprint.
4,142 results