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

Year Number of Results
2000 1
2002 3
2003 1
2004 2
2005 1
2007 1
2008 1
2010 1
2011 3
2012 3
2013 1
2014 2
2015 1
2016 2
2017 2
2018 1
2019 3
2020 1
2021 4
2022 4
2023 3
2024 1

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39 results

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Page 1
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Among authors: van ghelue m. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
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: van ghelue m. BMC Cancer. 2023 Apr 21;23(1):368. doi: 10.1186/s12885-023-10790-w. BMC Cancer. 2023. PMID: 37085799 Free PMC article.
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA. Jensen SM, et al. Among authors: van ghelue m. Neuromuscul Disord. 2023 Feb;33(2):119-132. doi: 10.1016/j.nmd.2022.11.005. Epub 2022 Nov 25. Neuromuscul Disord. 2023. PMID: 36522254 Free article.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Hovland HN, Al-Adhami R, Ariansen SL, Van Ghelue M, Sjursen W, Lima S, Bolstad M, Berger AH, Høberg-Vetti H, Knappskog P, Haukanes BI, Aukrust I, Ognedal E. Hovland HN, et al. Among authors: van ghelue m. Fam Cancer. 2022 Oct;21(4):389-398. doi: 10.1007/s10689-021-00286-6. Epub 2022 Jan 4. Fam Cancer. 2022. PMID: 34981296 Free PMC article.
HPyV6 and HPyV7 in urine from immunocompromised patients.
Prezioso C, Van Ghelue M, Moens U, Pietropaolo V. Prezioso C, et al. Among authors: van ghelue m. Virol J. 2021 Jan 22;18(1):24. doi: 10.1186/s12985-021-01496-1. Virol J. 2021. PMID: 33482864 Free PMC article.
39 results