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Results by year

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

Year Number of Results
1984 1
1986 1
1987 1
1988 1
1989 2
1990 3
1991 4
1992 1
1993 3
1994 5
1995 3
1996 2
1997 1
1998 1
2001 1
2002 2
2004 1
2005 1
2007 2
2008 2
2009 3
2010 7
2011 2
2012 2
2013 4
2015 2
2016 2
2017 3
2018 4
2019 2
2020 2
2021 8
2022 5
2023 3
2024 0

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81 results

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Page 1
Correspondence.
Boon CJ, van den Born LI, Keunen JE, Bergen AA, Riemslag FC, Florijn RJ, van Schooneveld MJ. Boon CJ, et al. Among authors: van schooneveld mj. Retina. 2015 Sep;35(9):e57-8. doi: 10.1097/IAE.0000000000000696. Retina. 2015. PMID: 26312452 No abstract available.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: van schooneveld mj. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Van de Sompele S, et al. Among authors: van schooneveld mj. Am J Hum Genet. 2022 Nov 3;109(11):2029-2048. doi: 10.1016/j.ajhg.2022.09.013. Epub 2022 Oct 14. Am J Hum Genet. 2022. PMID: 36243009 Free PMC article.
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF. Nguyen XT, et al. Among authors: van schooneveld mj. Int J Mol Sci. 2020 Jan 28;21(3):835. doi: 10.3390/ijms21030835. Int J Mol Sci. 2020. PMID: 32012938 Free PMC article.
The Peters'-Plus syndrome: description of 16 patients and review of the literature.
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Among authors: van schooneveld mj. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, Ten Brink JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, van Genderen MM, Sieving PA, Leroy BP, Bergen AA, Boon CJF. Hahn LC, et al. Among authors: van schooneveld mj. Ophthalmology. 2022 Feb;129(2):191-202. doi: 10.1016/j.ophtha.2021.09.021. Epub 2021 Oct 6. Ophthalmology. 2022. PMID: 34624300 Free article.
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Talsma HE, Fiocco M, Florijn RJ, Ten Brink JB, Cremers FPM, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, Boon CJF. Nguyen XT, et al. Among authors: van schooneveld mj. Am J Ophthalmol. 2022 Feb;234:37-48. doi: 10.1016/j.ajo.2021.07.021. Epub 2021 Jul 25. Am J Ophthalmol. 2022. PMID: 34320374 Free article.
Peters'-plus: a new syndrome.
van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM. van Schooneveld MJ, et al. Ophthalmic Paediatr Genet. 1984 Dec;4(3):141-5. doi: 10.3109/13816818409006113. Ophthalmic Paediatr Genet. 1984. PMID: 6443615
81 results