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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2001 1
2004 2
2008 1
2009 1
2010 1
2011 2
2012 2
2013 3
2015 3
2016 1
2017 2
2018 5
2019 1
2020 5
2021 6
2022 1
2023 2
2024 1

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33 results

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Page 1
ADAMTSL4-Related Eye Disorders.
Rødahl E, Mellgren AEC, Boonstra NE, Knappskog PM. Rødahl E, et al. Among authors: knappskog pm. 2012 Feb 16 [updated 2020 Jul 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Feb 16 [updated 2020 Jul 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22338190 Free Books & Documents. Review.
Cold-Induced Sweating Syndrome Including Crisponi Syndrome.
Hahn AF, Knappskog PM. Hahn AF, et al. Among authors: knappskog pm. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21370513 Free Books & Documents. Review.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Bassi N, Hovland HN, Rasheed K, Jarhelle E, Pedersen N, Mchaina EK, Bakkan SME, Iversen N, Høberg-Vetti H, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E, Van Ghelue M. Bassi N, et al. Among authors: knappskog pm. BMC Cancer. 2023 Apr 21;23(1):368. doi: 10.1186/s12885-023-10790-w. BMC Cancer. 2023. PMID: 37085799 Free PMC article.
Genetic landscape of sporadic vestibular schwannoma.
Håvik AL, Bruland O, Myrseth E, Miletic H, Aarhus M, Knappskog PM, Lund-Johansen M. Håvik AL, et al. Among authors: knappskog pm. J Neurosurg. 2018 Mar;128(3):911-922. doi: 10.3171/2016.10.JNS161384. Epub 2017 Apr 14. J Neurosurg. 2018. PMID: 28409725
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: knappskog pm. Brain. 2024 Jan 18:awae018. doi: 10.1093/brain/awae018. Online ahead of print. Brain. 2024. PMID: 38242545
Screening for viral nucleic acids in vestibular schwannoma.
Håvik AL, Bruland O, Aarhus M, Kalland KH, Stokowy T, Lund-Johansen M, Knappskog PM. Håvik AL, et al. Among authors: knappskog pm. J Neurovirol. 2018 Dec;24(6):730-737. doi: 10.1007/s13365-018-0669-6. Epub 2018 Aug 30. J Neurovirol. 2018. PMID: 30168016
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: knappskog pm. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.
Eriksson D, Røyrvik EC, Aranda-Guillén M, Berger AH, Landegren N, Artaza H, Hallgren Å, Grytaas MA, Ström S, Bratland E, Botusan IR, Oftedal BE, Breivik L, Vaudel M, Helgeland Ø, Falorni A, Jørgensen AP, Hulting AL, Svartberg J, Ekwall O, Fougner KJ, Wahlberg J, Nedrebø BG, Dahlqvist P; Norwegian Addison Registry Study Group; Swedish Addison Registry Study Group; Knappskog PM, Wolff ASB, Bensing S, Johansson S, Kämpe O, Husebye ES. Eriksson D, et al. Among authors: knappskog pm. Nat Commun. 2021 Feb 11;12(1):959. doi: 10.1038/s41467-021-21015-8. Nat Commun. 2021. PMID: 33574239 Free PMC article.
33 results