Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Marcelis, C.L.M."'
Publikováno v:
In Biochemical Engineering Journal 2003 16(3):253-264
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:
Mitter, Diana, Lemke, J.R., Platzer, Konrad, Jamra, R.A., Amstel, Hans K. Ploos van, Smagt, J.J. van der, Marcelis, C.L.M., Hague, Jennifer, Park, Soo-Mi
Publikováno v:
Annals of Neurology, 84, 200-207
Annals of Neurology, 84, 2, pp. 200-207
Annals of Neurology, 84, 2, pp. 200-207
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb1deddad79aa3cc5117db71ba060e51
http://hdl.handle.net/2066/195597
http://hdl.handle.net/2066/195597
Akademický článek
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Autor:
Wijers, C.H.W., Blaauw, I. de, Zwink, N., Draaken, M., Zanden, L.F.M. van der, Brunner, H.G., Brooks, A.S., Hofstra, R.M., Sloots, C.E.J., Broens, P.M., Wijnen, M.H.W.A., Ludwig, M., Jenetzky, E., Reutter, H., Marcelis, C.L.M., Roeleveld, N., Rooij, I.A.L.M. van
Publikováno v:
Birth Defects Research Part A-Clinical and Molecular Teratology, 100(6), 483-492. Wiley-Liss Inc.
Birth Defects Research Part A-Clinical and Molecular Teratology, 100, 6, pp. 483-92
Birth Defects Research Part A-Clinical and Molecular Teratology, 100, 483-92
Birth Defects Research Part A-Clinical and Molecular Teratology, 100, 6, pp. 483-92
Birth Defects Research Part A-Clinical and Molecular Teratology, 100, 483-92
Contains fulltext : 136390.pdf (Publisher’s version ) (Open Access) Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic aci
Akademický článek
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Autor:
Bornholdt, D., Oeffner, F., Konig, A., Happle, R.H.G., Alanay, Y., Ascherman, J., Benke, P.J., Boente Mdel, C., Burgt, I. van der, Chassaing, N., Ellis, I., Francisco, C.R., Giovanna, P. Della, Hamel, B.C.J., Has, C., Heinelt, K., Janecke, A., Kastrup, W., Loeys, B.L., Lohrisch, I., Marcelis, C.L.M., Mehraein, Y., Nicolas, M.E., Pagliarini, D., Paradisi, M., Patrizi, A., Piccione, M., Piza-Katzer, H., Prager, B., Prescott, K., Strien, J., Utine, G.E., Zeller, M.S., Grzeschik, K.H.
Publikováno v:
Human Mutation, 30, 5, pp. E618-28
Human Mutation, 30, E618-28
Human Mutation, 30, E618-28
Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transm
Akademický článek
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Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 151, 2357-64
Nederlands Tijdschrift voor Geneeskunde, 151, 43, pp. 2357-64
Nederlands Tijdschrift voor Geneeskunde, 151, 43, pp. 2357-64
Item does not contain fulltext Congenital long QT-syndrome (LQTS) was diagnosed in three patients. The first patient, a 10-year-old girl, presented with recurrent episodes of syncope during swimming and was diagnosed with type 1 LQTS. The second pati
Publikováno v:
European Psychiatry, 27
European Psychiatry, 27, Supp. 1
European Psychiatry, 27, Supp. 1
Item does not contain fulltext Introduction Spinocerebellar ataxias represent a heterogeneous group of neurodegenerative disorders. Over the last decade, novel mitochondrial genetic diseases have been identified in which mutations in DNA polymerase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0be354926c32eb2a267d839ba2f72667
http://hdl.handle.net/2066/102790
http://hdl.handle.net/2066/102790