Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
van den Hurk, JAJM, Schwartz, M, van Bokhoven, H, van de Pol, TJR, Bogerd, L, Pinckers, AJLG, Bleeker-Wagemakers, EM, Pawlowitzki, IH, Rüther, K, Ropers, H-H, Cremers, FPM
Published in Human mutation (1997)
Published in Human mutation (1997)
Get full text
Journal Article
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs
Luijendijk, M.W.J., van de Pol, T.J.R., van Duijnhoven, G., den Hollander, A.I., ten Caat, J., van Limpt, V., Brunner, H.G., Kremer, H., Cremers, F.P.M.
Published in Genomics (San Diego, Calif.) (01.10.2003)
Published in Genomics (San Diego, Calif.) (01.10.2003)
Get full text
Journal Article
Isolation of a candidate gene for Norrie disease by positional cloning
Berger, W, Meindl, A, van de Pol, T.J.R, Cremers, F.P.M, Ropers, H.H, Döerner, C, Monaco, A, Bergen, A.A.B, Lebo, R, Warburg, M, Zergollern, L, Lorenz, B, Gal, A, Bleeker-Wagemakers, E.M, Meitinger, T
Published in Nature genetics (01.06.1992)
Published in Nature genetics (01.06.1992)
Get full text
Journal Article
Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease
Gerber, S., Rozet, J.M., van de Pol, T.J.R., Hoyng, C.B., Munnich, A., Blankenagel, A., Kaplan, J., Cremers, F.P.M.
Published in Genomics (San Diego, Calif.) (15.02.1998)
Published in Genomics (San Diego, Calif.) (15.02.1998)
Get full text
Journal Article
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
VAN DEN HURK, J. A. J. M, VAN DE POL, T. J. R, ROPERS, H.-H, CREMERS, F. P. M, MOLLOY, C. M, BRUNSMANN, F, RÜTHER, K, ZRENNER, E, PINCKERS, A. J. L. G, PAWLOWITZKI, I. H, BLEEKER-WAGEMAKERS, E. M, WIERINGA, B
Published in American journal of human genetics (01.06.1992)
Get full text
Published in American journal of human genetics (01.06.1992)
Journal Article
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome
Berger, W, Meindl, A, de Leeuw, B, de Roos, A, van de Pol, T J, Meitinger, T, van der Velde-Visser, S D, Achatz, H, Geurts van Kessel, A, Cremers, F P
Published in Human genetics (01.11.1992)
Published in Human genetics (01.11.1992)
Get more information
Journal Article