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

Year Number of Results
2005 2
2006 1
2007 1
2008 1
2009 2
2010 2
2011 3
2012 4
2013 7
2014 7
2015 3
2016 8
2017 10
2018 8
2019 16
2020 18
2021 25
2022 25
2023 22
2024 5

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147 results

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Page 1
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: pereira c. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: pereira c. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
Thermoregulation and aging.
Vogelaere P, Pereira C. Vogelaere P, et al. Among authors: pereira c. Rev Port Cardiol. 2005 May;24(5):747-61. Rev Port Cardiol. 2005. PMID: 16041970 Review. English, Portuguese.
AI-2-mediated signalling in bacteria.
Pereira CS, Thompson JA, Xavier KB. Pereira CS, et al. FEMS Microbiol Rev. 2013 Mar;37(2):156-81. doi: 10.1111/j.1574-6976.2012.00345.x. Epub 2012 Jul 16. FEMS Microbiol Rev. 2013. PMID: 22712853 Free article. Review.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: pereira c. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Endocarditis by Streptococcus pasteurianus.
Pereira C, Nogueira F, Cunha Marques J, Ferreira JP, Almeida JS. Pereira C, et al. Cureus. 2023 Feb 2;15(2):e34529. doi: 10.7759/cureus.34529. eCollection 2023 Feb. Cureus. 2023. PMID: 36879704 Free PMC article.
Scrofula in a Child.
Pereira C, Cascais M, Félix M, Salgado M. Pereira C, et al. J Pediatr. 2017 Oct;189:235. doi: 10.1016/j.jpeds.2017.06.039. Epub 2017 Jul 17. J Pediatr. 2017. PMID: 28728809 No abstract available.
Abdominal wall hernia repair: from prosthetic meshes to smart materials.
Saiding Q, Chen Y, Wang J, Pereira CL, Sarmento B, Cui W, Chen X. Saiding Q, et al. Among authors: pereira cl. Mater Today Bio. 2023 Jun 29;21:100691. doi: 10.1016/j.mtbio.2023.100691. eCollection 2023 Aug. Mater Today Bio. 2023. PMID: 37455815 Free PMC article. Review.
147 results