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

Year Number of Results
2004 1
2006 1
2007 2
2008 3
2009 2
2010 3
2011 3
2012 3
2013 2
2014 7
2015 3
2016 3
2017 5
2018 5
2019 4
2020 1
2021 2
2022 0
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41 results
Results by year
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Page 1
11β-Hydroxysteroid Dehydrogenase 2 in Preeclampsia.
Kosicka K, Siemiątkowska A, Główka FK. Kosicka K, et al. Among authors: siemiatkowska a. Int J Endocrinol. 2016;2016:5279462. doi: 10.1155/2016/5279462. Epub 2016 Apr 21. Int J Endocrinol. 2016. PMID: 27200090 Free PMC article. Review.
Prenylation defects in inherited retinal diseases.
Roosing S, Collin RW, den Hollander AI, Cremers FP, Siemiatkowska AM. Roosing S, et al. Among authors: siemiatkowska am. J Med Genet. 2014 Mar;51(3):143-51. doi: 10.1136/jmedgenet-2013-102138. Epub 2014 Jan 8. J Med Genet. 2014. PMID: 24401286 Review.
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Ozgül RK, et al. Among authors: siemiatkowska am. Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005. Am J Hum Genet. 2011. PMID: 21835304 Free PMC article.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP. Siemiatkowska AM, et al. Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014. Mol Vis. 2014. PMID: 24940029 Free PMC article.
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Among authors: siemiatkowska am. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FPM, Collin RWJ. Siemiatkowska AM, et al. Ophthalmology. 2013 Dec;120(12):2697-2705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29. Ophthalmology. 2013. PMID: 24084495
41 results