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Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.
Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V. Navarro-Fernández J, et al. Among authors: heimdal k. Oncotarget. 2018 Sep 4;9(69):33202-33214. doi: 10.18632/oncotarget.26059. eCollection 2018 Sep 4. Oncotarget. 2018. PMID: 30237862 Free PMC article.
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
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T. Cockerell I, et al. Among authors: heimdal k. Orphanet J Rare Dis. 2023 Dec 2;18(1):377. doi: 10.1186/s13023-023-02982-1. Orphanet J Rare Dis. 2023. PMID: 38042867 Free PMC article. Clinical Trial.
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.
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.
141 results