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141 results

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: heimdal k. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.
Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S. Pihlstrøm HK, et al. Among authors: heimdal k. JIMD Rep. 2021 Jul 16;62(1):56-69. doi: 10.1002/jmd2.12240. eCollection 2021 Nov. JIMD Rep. 2021. PMID: 34765399 Free PMC article.
Long-term experience with intranasal bevacizumab therapy.
Steineger J, Osnes T, Heimdal K, Dheyauldeen S. Steineger J, et al. Among authors: heimdal k. Laryngoscope. 2018 Oct;128(10):2237-2244. doi: 10.1002/lary.27147. Epub 2018 Feb 22. Laryngoscope. 2018. PMID: 29469958
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.
Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK. Sigurdardottir S, et al. Among authors: heimdal k. Orphanet J Rare Dis. 2021 Oct 12;16(1):427. doi: 10.1186/s13023-021-02066-y. Orphanet J Rare Dis. 2021. PMID: 34641933 Free PMC article.
Prognostic significance of TP53 alterations in breast carcinoma.
Andersen TI, Holm R, Nesland JM, Heimdal KR, Ottestad L, Børresen AL. Andersen TI, et al. Among authors: heimdal kr. Br J Cancer. 1993 Sep;68(3):540-8. doi: 10.1038/bjc.1993.383. Br J Cancer. 1993. PMID: 8102535 Free PMC article.
Abnormally wide eustachian tubes involving the sphenoid bone: A collection.
Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E. Falkenberg-Jensen B, et al. Laryngoscope Investig Otolaryngol. 2018 Apr 25;3(3):214-217. doi: 10.1002/lio2.158. eCollection 2018 Jun. Laryngoscope Investig Otolaryngol. 2018. PMID: 30062137 Free PMC article.
141 results