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Results by year

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

Year Number of Results
2009 2
2010 2
2011 3
2012 1
2014 1
2015 1
2016 5
2017 2
2018 4
2019 6
2020 10
2021 1
2022 5
2023 4
2024 1

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42 results

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Page 1
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: van bergen nj. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Mitochondrial disorders and the eye.
Van Bergen NJ, Chakrabarti R, O'Neill EC, Crowston JG, Trounce IA. Van Bergen NJ, et al. Eye Brain. 2011 Sep 26;3:29-47. doi: 10.2147/EB.S16192. eCollection 2011. Eye Brain. 2011. PMID: 28539774 Free PMC article. Review.
Mitochondrial dysfunction and glaucoma.
Kong GY, Van Bergen NJ, Trounce IA, Crowston JG. Kong GY, et al. Among authors: van bergen nj. J Glaucoma. 2009 Feb;18(2):93-100. doi: 10.1097/IJG.0b013e318181284f. J Glaucoma. 2009. PMID: 19225343 Review.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ, Gunanayagam K, Bournazos AM, Walvekar AS, Warmoes MO, Semcesen LN, Lunke S, Bommireddipalli S, Sikora T, Patraskaki M, Jones DL, Garza D, Sebire D, Gooley S, McLean CA, Naidoo P, Rajasekaran M, Stroud DA, Linster CL, Wallis M, Cooper ST, Christodoulou J. Van Bergen NJ, et al. Int J Mol Sci. 2023 Feb 10;24(4):3582. doi: 10.3390/ijms24043582. Int J Mol Sci. 2023. PMID: 36834994 Free PMC article.
Mitochondrial dysfunction in glaucoma and emerging bioenergetic therapies.
Lee S, Van Bergen NJ, Kong GY, Chrysostomou V, Waugh HS, O'Neill EC, Crowston JG, Trounce IA. Lee S, et al. Among authors: van bergen nj. Exp Eye Res. 2011 Aug;93(2):204-12. doi: 10.1016/j.exer.2010.07.015. Epub 2010 Aug 4. Exp Eye Res. 2011. PMID: 20691180 Review.
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z. Schönewolf-Greulich B, et al. Among authors: van bergen nj. Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 29023665 Review.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Schönewolf-Greulich B, Bisgaard AM, Dunø M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brøndum-Nielsen K, Larsen MJ, Sørensen KP, Christodoulou J, Fagerberg CR, Tümer Z. Schönewolf-Greulich B, et al. Among authors: van bergen nj. Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7. Clin Genet. 2019. PMID: 30417326 Review.
42 results