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Year Number of Results
1980 1
1983 1
1985 1
1988 1
1989 1
1990 2
1991 3
1992 3
1993 6
1994 5
1995 3
1996 4
1997 4
1998 1
1999 9
2000 6
2001 3
2002 3
2003 3
2004 3
2005 6
2006 3
2007 10
2008 3
2009 5
2010 4
2011 3
2012 9
2013 7
2014 3
2015 5
2016 4
2017 7
2018 11
2019 3
2020 6
2021 6
2022 1
2023 3
2024 5
2025 2

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145 results

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Page 1
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Faughnan ME, et al. Among authors: heimdal k. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. Ann Intern Med. 2020. PMID: 32894695 Free 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 Free PMC article.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: heimdal kr. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
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.
Epidemiology of craniosynostosis in Norway.
Tønne E, Due-Tønnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, Heimdal KR. Tønne E, et al. Among authors: heimdal kr. J Neurosurg Pediatr. 2020 Apr 3;26(1):68-75. doi: 10.3171/2020.1.PEDS2051. Print 2020 Jul 1. J Neurosurg Pediatr. 2020. PMID: 32244202
Conservation and divergence of metabolic phenotypes between patient tumours and matched xenografts.
Rao AD, Cai L, Snyman M, Walsdorf RE, Li X, Wix SN, Gard G, Brown AB, Kim J, Santos Patricio J, Muh S, Martin Sandoval M, Zacharias LG, Heimdal KA, Gu W, Homsi J, Tillman B, Sharma R, Vandergriff TW, Solmonson A, Faubert B, Mathews TP, Morrison SJ, DeBerardinis RJ, Gill JG. Rao AD, et al. Among authors: heimdal ka. Nat Metab. 2025 Aug;7(8):1703-1713. doi: 10.1038/s42255-025-01338-2. Epub 2025 Jul 29. Nat Metab. 2025. PMID: 40731149 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
145 results