المؤلفون: Mannens, M.^Aff3, Hoovers, J.^Aff3, Bleeker-Wagemakers, E. M.^Aff4, Bliek, J.^Aff3, Redeker, B.^Aff3, John, R.^Aff5, Little, P.^Aff5, Voûte, P. A.^Aff6, Heyting, C.^Aff3, Slater, R. M.^Aff3, Westerveld, A.^Aff3

المساهمون: Lynch, Henry T., editor^Aff1, Tautu, Petre, editor^Aff2

المصدر: Recent Progress in the Genetic Epidemiology of Cancer. :78-88

Degree: MD

المؤلفون: Bergen, A. A. B., Samanns, C., Schuurman, E. J. M., van Osch, L., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., Gal, A., van Ommen, G. J. B., Bleeker-Wagemakers, E. M.

المصدر: Human Genetics. December 1991 88(2):162-166

المؤلفون: Barth, P. G., Wanders, R. J. A., Schutgens, R. B. H., Bleeker-Wagemakers, E. M., van Heemstra, D.

المصدر: European Journal of Pediatrics. July 1990 149(10):722-726

المؤلفون: Diergaarde, P. J., Wieringa, B., Bleeker-Wagemakers, E. M., Sims, K. B., Breakefield, X. O., Ropers, H. -H.

المصدر: Human Genetics. December 1989 84(1):22-26

المؤلفون: Barth, P. G., Schutgens, R. B. H., Wanders, R. J. A., Heymans, H. S. A., Moser, A. E., Moser, H. W., Bleeker-Wagemakers, E. M., Jansonius-Schultheiss, K., Derix, M., Nelck, G. F.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 1987 10(3):253-259

المؤلفون: Bijlsma, J. B., De France, H., Bleeker-Wagemakers, E. M., Wijefels, J. C. H. M.

المصدر: Humangenetik. June 1971 12(2):110-122

المؤلفون: Oostra, R. J., Kemp, S., Bolhuis, P. A., Bleeker-Wagemakers, E. M.

المساهمون: Other departments

المصدر: Human genetics, 97(4), 500-505. Springer Verlag

مصطلحات موضوعية: genetic structures, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::36115ec2516e5ecfb19299355c66faff
https://pure.amc.nl/en/publications/no-evidence-for-skewed-inactivation-of-the-xchromosome-as-cause-of-lebers-hereditary-optic-neuropathy-in-female-carriers(e6a5dad6-a64e-42e5-8b39-27d90a2c8ea6).html

المؤلفون: Oostra, R J, Van den Bogert, C, Nijtmans, L G, van Galen, M J, Zwart, R, Bolhuis, P A, Bleeker-Wagemakers, E M

المساهمون: Other departments

المصدر: American journal of human genetics, 57(4), 954-957. Cell Press

مصطلحات موضوعية: Adult, Letter, Adolescent, Optic Atrophies, Hereditary, Humans, Point Mutation, Middle Aged, DNA, Mitochondrial

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f37ecb94b7fd1f8d305cc36d9d1db7db
https://pure.amc.nl/en/publications/simultaneous-occurrence-of-the-11778-nd4-and-the-9438-cox-iii-mtdna-mutations-in-leber-hereditary-optic-neuropathy-molecular-biochemical-and-clinical-findings(905edc86-e498-4ce7-ad40-b06d703c54d9).html

المؤلفون: van den Hurk, J. A. J. M., van de Pol, T. J. R., Molloy, C. M., Brunsmann, F., Rüther, K., Zrenner, E., Pinckers, A. J. L. G., Pawlowitzki, I. H., Bleeker-Wagemakers, E. M., Wieringa, B., Ropers, H. -H., Cremers, F. P. M.

مصطلحات موضوعية: X Chromosome, Base Sequence, Choroid, Molecular Sequence Data, Chromosome Mapping, DNA, Single-Stranded, Original Articles, DNA, Exons, Polymerase Chain Reaction, eye diseases, Retina, Translocation, Genetic, Chromosome Banding, Open Reading Frames, Genes, Oligodeoxyribonucleotides, Mutation, Humans, Female, sense organs, Amino Acid Sequence, Chromosome Deletion, Pigment Epithelium of Eye, Choroideremia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::304f421325064caa902fe3595b47fcd2
https://europepmc.org/articles/PMC1682553/

المؤلفون: Verbraak, F. D., Pogány, K., Pilon, J. W., Mooy, C. M., de France, H. F., Hennekam, R. C., Bleeker-Wagemakers, E. M.

المساهمون: Other departments

المصدر: Ophthalmic paediatrics and genetics, 13(3), 165-170. Aeolus Press

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, sense organs, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::e0e7caf3a49d00cf764c867582aa46d2
https://pure.amc.nl/en/publications/congenital-glaucoma-in-a-child-with-partial-1q-duplication-and-9p-deletion(976969a5-4cc0-4980-999c-08f6b7b677d8).html