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[Genetic diffuse cystic lung disease in adults].
Diesler R, Ahmad K, Chalabreysse L, Glérant JC, Harzallah I, Touraine R, Si-Mohamed S, Cottin V. Diesler R, et al. Rev Mal Respir. 2024 Jan;41(1):69-88. doi: 10.1016/j.rmr.2023.08.005. Epub 2023 Nov 10. Rev Mal Respir. 2024. PMID: 37951745 Review. French.
[Stability of hemostatic parameters in whole blood, fresh plasma, and frozen plasma: literature review and recommendations from the French Society of Thrombosis and Hemostasis (SFTH)].
Flaujac C, Delassasseigne C, Hurtaud-Roux MF, Delahousse B, Boissier E, Desconclois C; Groupe de travail pré-analytique de la Société Française de Thrombose et d’Hémostase. Flaujac C, et al. Ann Biol Clin (Paris). 2025 Aug 26;83(4):446-467. doi: 10.1684/abc.2025.1987. Ann Biol Clin (Paris). 2025. PMID: 40768235 Review. French.
Genotyping methods for Fuchs corneal endothelial dystrophy.
Onitiu D, Harzallah I, Vaitinadapoule H, Mascarelli F, Touraine R, He Z, Dorado-Cortez O, Trone MC, Gain P, Thuret G. Onitiu D, et al. J Fr Ophtalmol. 2025 May;48(5):104509. doi: 10.1016/j.jfo.2025.104509. Epub 2025 Apr 4. J Fr Ophtalmol. 2025. PMID: 40186897 Review.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671. medRxiv. 2024. PMID: 38293186 Free PMC article. Preprint.
35 results