Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Van den Hurk JA"'
Publikováno v:
Nature genetics. 1(2)
Choroideremia (CHM) is an X–linked progressive degeneration of the choroid and retina. 12% of unrelated male patients carry deletions of the partially cloned CHM gene. In Finland, there are more than 120 living CHM patients belonging to eight appar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae404d527b1f5c2475950c2d011919e
https://pubmed.ncbi.nlm.nih.gov/1302003
https://pubmed.ncbi.nlm.nih.gov/1302003
Autor:
van den Hurk JA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands., Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2007 Jul 01; Vol. 16 (13), pp. 1587-92. Date of Electronic Publication: 2007 May 04.
Autor:
Michielse CB; Department of Neurology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands., Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2006 Dec; Vol. 14 (12), pp. 1306-12. Date of Electronic Publication: 2006 Aug 16.
Autor:
Renner AB; Department of Ophthalmology, Charité Universitätsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany. a.renner@berlin.de, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH
Publikováno v:
Ophthalmology [Ophthalmology] 2006 Nov; Vol. 113 (11), pp. 2066.e1-10. Date of Electronic Publication: 2006 Aug 28.
Autor:
van den Hurk JA; Department of Human Genetics, Radboud Univerisity Nijmegen Medical Center, Nijmegen, The Netherlands., Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI
Publikováno v:
Molecular vision [Mol Vis] 2005 Apr 15; Vol. 11, pp. 263-73. Date of Electronic Publication: 2005 Apr 15.
Autor:
Shi W; Max-Planck-Institute for Molecular Genetics, Berlin-Dahlem, Germany., van den Hurk JA, Alamo-Bethencourt V, Mayer W, Winkens HJ, Ropers HH, Cremers FP, Fundele R
Publikováno v:
Developmental biology [Dev Biol] 2004 Aug 01; Vol. 272 (1), pp. 53-65.
Autor:
van den Hurk JA; Department of Human Genetics, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. J.vandenHurk@antrg.umcn.nl, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP
Publikováno v:
Human genetics [Hum Genet] 2003 Aug; Vol. 113 (3), pp. 268-75. Date of Electronic Publication: 2003 Jun 25.
Autor:
Cremers FP; Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. F.Cremers@antrg.azn.nl, van den Hurk JA, den Hollander AI
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2002 May 15; Vol. 11 (10), pp. 1169-76.
Autor:
Opdam FJ; Department of Cell Biology, Institute of Cellular Signalling, University of Nijmegen, PO Box 9101, Nijmegen, The Netherlands., Echard A, Croes HJ, van den Hurk JA, van de Vorstenbosch RA, Ginsel LA, Goud B, Fransen JA
Publikováno v:
Journal of cell science [J Cell Sci] 2000 Aug; Vol. 113 ( Pt 15), pp. 2725-35.
Autor:
van den Hurk JA; Department of Human Genetics, University Hospital Nijmegen, The Netherlands. j.vandenhurk@antrg.azn.nl, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP
Publikováno v:
Human molecular genetics [Hum Mol Genet] 1997 Jun; Vol. 6 (6), pp. 851-8.