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Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.
Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium; Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Tosi LL, et al. Orphanet J Rare Dis. 2019 Jan 29;14(1):23. doi: 10.1186/s13023-019-1004-x. Orphanet J Rare Dis. 2019. PMID: 30696467 Free PMC article.
Tendon properties in a mouse model of severe osteogenesis imperfecta.
Sinkam L, Boraschi-Diaz I, Svensson RB, Kjaer M, Komarova SV, Bergeron R, Rauch F, Veilleux LN. Sinkam L, et al. Among authors: rauch f. Connect Tissue Res. 2023 May;64(3):285-293. doi: 10.1080/03008207.2022.2161376. Epub 2022 Dec 28. Connect Tissue Res. 2023. PMID: 36576243 Free article.
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A, Voraberger B, Rauch F, Mairhofer M, Schmidt K, Guillemyn B, Mitulović G, Reiterer V, Haun M, Mayr MM, Mayr JA, Kimeswenger S, Drews O, Saraff V, Shaw N, Fratzl-Zelman N, Symoens S, Farhan H, Högler W. El-Gazzar A, et al. Among authors: rauch f. EMBO Mol Med. 2023 Apr 11;15(4):e16834. doi: 10.15252/emmm.202216834. Epub 2023 Mar 14. EMBO Mol Med. 2023. PMID: 36916446 Free PMC article.
The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.
van Welzenis T, Westerheim I, Hart T, Wekre LL, Semler O, Rauch F, Dewavrin L, Dadzie R, Prince S, Raggio C. van Welzenis T, et al. Among authors: rauch f. BMC Public Health. 2024 Nov 28;24(1):3318. doi: 10.1186/s12889-024-20555-0. BMC Public Health. 2024. PMID: 39609757 Free PMC article.
449 results