Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
Maury, C.P.J, Tolvanen, Ritva, Boysen, Gudrun, Santavy, Jiri, de la Chapelle, Albert, Bleeker-Wagemakers, Liesbeth, Kere, Juha
Published in Nature genetics (01.10.1992)
Published in Nature genetics (01.10.1992)
Get full text
Journal Article
Mutations in the candidate gene for Norrie disease
Berger, W, van de Pol, D, Warburg, M, Gal, A, Bleeker-Wagemakers, L, de Silva, H, Meindl, A, Meitinger, T, Cremers, F, Ropers, H H
Published in Human molecular genetics (01.10.1992)
Published in Human molecular genetics (01.10.1992)
Get more information
Journal Article
Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1
Roepman, Ronald, van Duijnhoven, Gerard, Rosenberg, Thomas, Pinckers, Alfred J. L. G., Bleeker-Wagemakers, Liesbeth M., Bergen, Arthur A. B., Post, Jan, Beck, Alfred, Reinhardt, Richard, Ropers, Hans-Hilger, Cremers, Frans P. M., Berger, Wolfgang
Published in Human molecular genetics (01.07.1996)
Published in Human molecular genetics (01.07.1996)
Get full text
Journal Article
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes
Lenders, J W, Eisenhofer, G, Abeling, N G, Berger, W, Murphy, D L, Konings, C H, Wagemakers, L M, Kopin, I J, Karoum, F, van Gennip, A H, Brunner, H G
Published in The Journal of clinical investigation (15.02.1996)
Published in The Journal of clinical investigation (15.02.1996)
Get full text
Journal Article
Peters' anomaly and systemic defects
van Schooneveld, M J, Delleman, J W, Beemer, F A, Bleeker-Wagemakers, L M
Published in Archives of ophthalmology (1960) (01.08.1986)
Published in Archives of ophthalmology (1960) (01.08.1986)
Get more information
Journal Article
Assignment of a Gene for Autosomal Recessive Retinitis Pigmentosa (RP12) to Chromosome 1q31-q32.1 in an Inbred and Genetically Heterogeneous Disease Population
van Soest, Simone, van den Born, L.Ingeborgh, Gal, Andreas, Farrar, G.Jane, Bleeker-Wagemakers, Liesbeth M., Westerveld, Andries, Humphries, Peter, Sandkuijl, Lodewijk A., Bergen, Arthur A.B.
Published in Genomics (San Diego, Calif.) (01.08.1994)
Published in Genomics (San Diego, Calif.) (01.08.1994)
Get full text
Journal Article
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene
Bergen, A A, ten Brink, J B, Bleeker-Wagemakers, L M, van Schooneveld, M J
Published in Journal of medical genetics (01.12.1994)
Published in Journal of medical genetics (01.12.1994)
Get full text
Journal Article
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp
Gal, A, Schinzel, A, Orth, U, Fraser, N A, Mollica, F, Craig, I W, Kruse, T, Mächler, M, Neugebauer, M, Bleeker-Wagemakers, L M
Published in Human genetics (01.03.1989)
Published in Human genetics (01.03.1989)
Get more information
Journal Article
Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa
Bleeker-Wagemakers, Liesbeth M., Gal, Andreas, Kumar-Singh, Rajendra, van den Born, L. Ingeborgh, Li, Yun, Schwinger, Eberhard, Sandkuijl, Lodewijk A., Bergen, Arthur A.B., Kenna, Paul, Humphries, Peter, Farrar, G. Jane
Published in Genomics (San Diego, Calif.) (01.11.1992)
Published in Genomics (San Diego, Calif.) (01.11.1992)
Get full text
Journal Article