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Page 1
Did you mean L. ingeborg van den born (2 results)?
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 den born li. Retina. 2015 Sep;35(9):e57-8. doi: 10.1097/IAE.0000000000000696. Retina. 2015. PMID: 26312452 No abstract available.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: van den born li. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Pierrache LHM, Ghafaryasl B, Khan MI, Yzer S, van Genderen MM, Schuil J, Boonstra FN, Pott JWR, de Faber JTHN, Tjon-Fo-Sang MJH, Vermeer KA, Cremers FPM, Klaver CCW, van den Born LI. Pierrache LHM, et al. Among authors: van den born li. Retina. 2020 Sep;40(9):1812-1828. doi: 10.1097/IAE.0000000000002681. Retina. 2020. PMID: 32032261
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: van den born li. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. Fadaie Z, et al. Among authors: van den born li. J Med Genet. 2022 May;59(5):438-444. doi: 10.1136/jmedgenet-2020-107626. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910932
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: van den born li. 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.
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 den born li. 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.
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB. Runhart EH, et al. Among authors: van den born li. Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256. doi: 10.1167/iovs.19-27524. Invest Ophthalmol Vis Sci. 2019. PMID: 31618761
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 den born li. 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.
105 results