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

Year Number of Results
1988 1
1992 1
1993 1
1994 3
1996 1
1997 3
1998 3
1999 5
2000 2
2002 5
2003 4
2004 2
2005 2
2006 1
2008 4
2009 4
2010 7
2011 9
2012 8
2013 5
2014 6
2015 5
2016 5
2017 6
2018 3
2019 8
2020 12
2021 16
2022 16
2023 10
2024 3

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Similar articles for PMID: 19862842

135 results

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Page 1
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Nemethova M, et al. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804398 Free PMC article.
Alkaptonuria in Russia.
Soltysova A, Kuzin A, Samarkina E, Zatkova A. Soltysova A, et al. Eur J Hum Genet. 2022 Feb;30(2):237-242. doi: 10.1038/s41431-021-00955-1. Epub 2021 Sep 10. Eur J Hum Genet. 2022. PMID: 34504318 Free PMC article.
135 results