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pro vyhledávání: '"Klaassens, M."'
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Akademický článek
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Publikováno v:
In European Journal of Medical Genetics 2009 52(5):281-286
Autor:
Verkouteren, B.J.A., Cosgun, B., Reinders, M.G.H.C., Kessler, P.A.W.K., Vermeulen, R.J., Klaassens, M., Lambrechts, S., van Rheenen, J.R., van Geel, M., Vreeburg, M., Mosterd, K.
Publikováno v:
British Journal of Dermatology; Feb2022, Vol. 186 Issue 2, p215-226, 12p
Autor:
Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM
Publikováno v:
American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6
American journal of human genetics, vol 102, iss 6
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379
http://hdl.handle.net/1887/79379
Autor:
Reijnders, M.R.F., Miller, K.A., Alvi, M., Goos, J.A.C., Lees, M.M., Burca, A. de, Henderson, A., Kraus, A., Mikat, B., Vries, B.B.A. de, Isidor, B., Kerr, B., Marcelis, C.L.M., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C.A.L., Wieczorek, D., Baralle, D., Blair, E.M., Engels, H., Ludecke, H.J., Eason, J., Santen, G.W.E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K., Radtke, K., Nugent, K.M., Cremer, K., Strom, T.M., Bird, L.M., Sinnema, M., Bitner-Glindzicz, M., Dooren, M.F. van, Alders, M., Koopmans, M., Brick, L., Kozenko, M., Harline, M.L., Klaassens, M., Steinraths, M., Cooper, N.S., Edery, P., Yap, P., Terhal, P.A., Spek, P.J. van der, Lakeman, P., Taylor, R.L., Littlejohn, R.O., Pfundt, R.P., Mercimek-Andrews, S., Stegmann, A.P.A., Kant, S.G., McLean, S., Joss, S., Swagemakers, S.M.A., Douzgou, S., Wall, S.A., Kury, S., Calpena, E., Koelling, N., McGowan, S.J., Twigg, S.R.F., Mathijssen, I.M.J., Nellaker, C., Brunner, H.G., Wilkie, A.O.M.
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 102, 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
American Journal of Human Genetics, 102(6), 1195-1203. Cell Press
American Journal of Human Genetics, 102, 6, pp. 1195-1203
American Journal of Human Genetics, 102, 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
American Journal of Human Genetics, 102(6), 1195-1203. Cell Press
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Human adenovirus (HAdV) E1B-55K is a multifunctional regulator of productive viral replication and oncogenic transformation in nonpermissive mammalian cells. These functions depend on E1B-55K's posttranslational modification with the SUMO protein and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7228083bae90c5039f1024da2c884c2e
https://www.ncbi.nlm.nih.gov/pubmed/29861108
https://www.ncbi.nlm.nih.gov/pubmed/29861108
Autor:
Peter Groote, Klaassens, M.
Publikováno v:
Faro, Tijdschrift over cultureel erfgoed, 5(3), 93-98
University of Groningen
University of Groningen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b54a4a063e97be85f68506598021b764
https://research.rug.nl/en/publications/6ded6bf0-7f02-45b5-b6ae-720eaa42437a
https://research.rug.nl/en/publications/6ded6bf0-7f02-45b5-b6ae-720eaa42437a
Publikováno v:
University of Groningen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2858737b64335ce5ca66a2fa4bf37380
https://research.rug.nl/en/publications/c0c91dea-c88f-49a9-a50d-4245ea661bca
https://research.rug.nl/en/publications/c0c91dea-c88f-49a9-a50d-4245ea661bca
Autor:
Vreeburg, M., de Vos-Houben, J., Schouten, M., Weiss, J., Pals, G., Maugeri, A., Robben, S., Detisch, Y., van Eijsden-Besseling, M.D.F, Verbunt, A.M.C.F., Klaassens, M., van Douveren, F., van Steensel, M., Marcus-Soekarman, D.
Publikováno v:
Najaarssymposium van de Nederlandse Vereniging voor Humane Genetica (NVHG) 2012 Arnhem
1st International Symposium on the EHLERS-DANLOS SYNDROME 8-11 September 2012 Ghent-Belgium
1st International Symposium on the EHLERS-DANLOS SYNDROME 8-11 September 2012 Ghent-Belgium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::63b97e002b94a906bc9ac03d9cfa60f3
https://cris.maastrichtuniversity.nl/en/publications/6aeabdea-ea67-45e6-8a17-22b2cf29a385
https://cris.maastrichtuniversity.nl/en/publications/6aeabdea-ea67-45e6-8a17-22b2cf29a385