Zobrazeno 1 - 10
of 259
pro vyhledávání: '"Kleijer, W.J."'
Autor:
Linnebank, M., Semmler, A., Moskau, S., Kleijer, W.J., van der Sterre, M.L.T., Gärtner, J., Fliessbach, K., Sokolowski, P., Köhler, W., Schlegel, U., Klockgether, T., Wanders, R.J.A., Schmidt, S., Wüllner, U., Kemp, S.
Publikováno v:
Aktuelle Neurologie; 20240101, Issue: Preprints
Autor:
Ausems, M.G.E.M., Kroos, M.A., Kraan, M. van der, Smeitink, J.A.M., Kleijer, W.J., Ploos van Amstel, J.K., Reuser, A.J.J.
Publikováno v:
Clinical Genetics, 49, 325-328
Clinical Genetics, 49, pp. 325-328
Clinical Genetics, 49, 6, pp. 325-328
Clinical Genetics, 49, pp. 325-328
Clinical Genetics, 49, 6, pp. 325-328
Contains fulltext : 24033___.PDF (Publisher’s version ) (Open Access)
Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 147, 386-9
Nederlands Tijdschrift voor Geneeskunde, 147, 9, pp. 386-9
Nederlands Tijdschrift voor Geneeskunde, 147, 9, pp. 386-9
Item does not contain fulltext Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectasia, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::456ee9c268655c213ad3e46feb7cd431
http://hdl.handle.net/2066/144268
http://hdl.handle.net/2066/144268
Autor:
Boehmer, A.L., Brinkmann, A.O., Bruggenwirth, H.T., Assendelft, C. van, Otten, B.J., Verleun-Mooijman, M.C.T., Niermeijer, M.F., Brunner, H.G., Rouwé, C.W., Waelkens, J.J., Oostdijk, W., Kleijer, W.J., Kwast, T.H. van der, Vroede, M.A. de, Drop, S.L.
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 86, 9, pp. 4151-60
Journal of Clinical Endocrinology and Metabolism, 86, 4151-60
Journal of Clinical Endocrinology and Metabolism, 86, 4151-60
Item does not contain fulltext Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::636ce3b24ed9853c4126245dad4f1661
https://hdl.handle.net/2066/144648
https://hdl.handle.net/2066/144648
Autor:
Vermeulen, W., Rademakers, S., Jaspers, N.G.J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W.J., Kjærsgaard Hansen, Lars
Publikováno v:
Vermeulen, W, Rademakers, S, Jaspers, N G J, Appeldoorn, E, Raams, A, Klein, B, Kleijer, W J & Kjærsgaard Hansen, L 2001, ' A temperature-sensitive disorder in basal transcription and DNA repair in humans ', Nature Genetics, vol. 27, pp. 299-303 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3062::ea04af1a41169494f3694bbe9211e5e8
https://portal.findresearcher.sdu.dk/da/publications/cbb335e0-6fcd-11db-81a9-000ea68e967b
https://portal.findresearcher.sdu.dk/da/publications/cbb335e0-6fcd-11db-81a9-000ea68e967b
Autor:
Vervoort, R., Buist, N.R.M., Kleijer, W.J., Wevers, R., Fryns, J.-P., Liebaers, I., Lissens, W.
Publikováno v:
Human Genetics, 99, 462-468
Human Genetics, 99, iss, 4, pp. 462-468
Human Genetics, 99, iss, 4, pp. 462-468
Contains fulltext : 24427___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ac06f5661b9474fdb42868831fddad03
http://hdl.handle.net/2066/24427
http://hdl.handle.net/2066/24427
Autor:
Bruggenwirth, H.T., Boehmer, A.L., Verleun-Mooijman, M.C.T., Hoogenboezem, T., Kleijer, W.J., Otten, B.J., Trapman, J., Brinkmann, A.O.
Publikováno v:
Journal of Steroid Biochemistry and Molecular Biology, 5/6, pp. 569-575
Journal of Steroid Biochemistry and Molecular Biology, 5/6, 569-575
Journal of Steroid Biochemistry and Molecular Biology, 5/6, 569-575
Item does not contain fulltext 7 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bf07ffffa497bdeb65bcb57e638cb76d
https://hdl.handle.net/2066/189034
https://hdl.handle.net/2066/189034
Autor:
Kroos, M.A., Kraan, M. van der, Diggelen, O.P. van, Kleijer, W.J., Reuser, A.J.J., Boogaard, M.J. van den, Ausems, M.G.E.M., Ploos van Amstel, J.K., Poenaru, L., Nicolino, M., Wevers, R.A.
Publikováno v:
Journal of Medical Genetics, 32, pp. 836-837
Journal of Medical Genetics, 32, 836-837
Journal of Medical Genetics, 32, 836-837
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::38c52676d035fee3d066a83993415ceb
https://hdl.handle.net/2066/188466
https://hdl.handle.net/2066/188466
Autor:
Eveno, E., Bourre, F., Quilliet, X., Chevallier-Lagente, O., Roza, L., Eker, A.P.M., Kleijer, W.J., Nikaido, O., Stefanini, M., Hoeijmakers, J.H.J., Bootsma, D., Cleaver, J.E., Sarasin, A., Mezzina, M.
Publikováno v:
Cancer Research, 55, 4325-4332
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fd56037c825a9496b1c39a0188f583ec
http://resolver.tudelft.nl/uuid:5648fbcc-c9d1-4d2d-ac4d-611367c0ae28
http://resolver.tudelft.nl/uuid:5648fbcc-c9d1-4d2d-ac4d-611367c0ae28
Autor:
Bikker, H., Bakker, H.D., Abeling, N.G.G.M., Poll-The, B.T., Kleijer, W.J., Rosenblatt, D.S., Waterham, H.R., Wanders, R.J.A., Duran, M.
Publikováno v:
Human Mutation; Jul2006, Vol. 27 Issue 7, p640-643, 4p