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

Year Number of Results
1993 2
1995 2
1996 1
1998 2
1999 1
2000 3
2001 1
2002 2
2003 5
2004 5
2005 8
2006 3
2007 10
2008 5
2009 8
2010 10
2011 5
2012 9
2013 11
2014 11
2015 9
2016 12
2017 4
2018 5
2019 3
2020 4
2021 5
2022 4
2023 4
2024 2

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144 results

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Page 1
Usher Syndrome Type I.
Koenekoop RK, Arriaga MA, Trzupek KM, Lentz JJ. Koenekoop RK, et al. 1999 Dec 10 [updated 2020 Oct 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Dec 10 [updated 2020 Oct 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301442 Free Books & Documents. Review.
A Review of Secondary Photoreceptor Degenerations in Systemic Disease.
Mysore N, Koenekoop J, Li S, Ren H, Keser V, Lopez-Solache I, Koenekoop RK. Mysore N, et al. Among authors: koenekoop rk. Cold Spring Harb Perspect Med. 2014 Dec 4;5(11):a025825. doi: 10.1101/cshperspect.a025825. Cold Spring Harb Perspect Med. 2014. PMID: 25475108 Free PMC article. Review.
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Among authors: koenekoop rk. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: koenekoop rk. Genet Med. 2024 Jun;26(6):101106. doi: 10.1016/j.gim.2024.101106. Epub 2024 Feb 28. Genet Med. 2024. PMID: 38420906 Free article.
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. den Hollander AI, et al. Among authors: koenekoop rk. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Prog Retin Eye Res. 2008. PMID: 18632300 Review.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: koenekoop rk. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
144 results