المؤلفون: Rutten, J.W., Hack, R.J., Duering, M., Gravesteijn, G., Dauwerse, J.G., Overzier, M., Akker, E.B. van den, Slagboom, E., Holstege, H., Nho, K., Saykin, A., Dichgans, M., Malik, R., Oberstein, S.A.J.L.

المصدر: Neurology

وصف الملف: application/pdf

Relation: https://hdl.handle.net/1887/4092325

الاتاحة: https://hdl.handle.net/1887/4092325
https://www.neurology.org/doi/10.1212/WNL.0000000000010525
https://doi.org/10.1212/WNL.0000000000010525

المؤلفون: Booij, T.H., Leonhard, W.N., Bange, H., Yan, K., Fokkelman, M., Plugge, A.J., Veraar, K.A.M., Dauwerse, J.G., Westen, G.J.P. van, Water, B. van de, Price, L.S., Peters, D.J.M.

المصدر: Journal of Molecular Cell Biology

مصطلحات موضوعية: PKD, Celastrol, Pyrvinium pamoate, High-content screening, 3D

وصف الملف: application/pdf

Relation: lucris-id: 108724824; https://hdl.handle.net/1887/75262

الاتاحة: https://hdl.handle.net/1887/75262
https://doi.org/10.1093/jmcb/mjz029

المؤلفون: Gravesteijn, G., Dauwerse, J.G., Overzier, M., Brouwer, G., Hegeman, I., Mulder, A.A., Baas, F., Kruit, M.C., Terwindt, G.M., Duinen, S.G. van, Jost, C.R., Aartsma-Rus, A., Oberstein, S.A.J.L., Rutten, J.W.

المصدر: Human Molecular Genetics

مصطلحات موضوعية: CADASIL, small vessel disease, NOTCH3, exon skipping, protein aggregation

وصف الملف: application/pdf

Relation: https://academic.oup.com/hmg/article/29/11/1853/5650455; lumc-id: 108224608; https://hdl.handle.net/1887/3182716

الاتاحة: https://hdl.handle.net/1887/3182716
https://academic.oup.com/hmg/article/29/11/1853/5650455
https://doi.org/10.1093/hmg/ddz285

المؤلفون: Formica, C., Kunnen, S., Dauwerse, J.G., Mullick, A.E., Dijkstra, K.L., Scharpfenecker, M., Peters, D.J.M.

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: 3D cysts, ADPKD, ASO, Hippo pathway, Yap, Taz

وصف الملف: application/pdf

Relation: lumc-id: 111799696; https://hdl.handle.net/1887/3184591

الاتاحة: https://hdl.handle.net/1887/3184591
https://onlinelibrary.wiley.com/doi/10.1111/jcmm.15512
https://doi.org/10.1111/jcmm.15512

المؤلفون: Dauwerse, J.G., Wessels, J.W., Giles, R.H., Wiegant, J., van der Reijden, B.A., Fugazza, G., Jumelet, E.A., Smit, E., Baas, F., Raap, A.K., Hagemeijer, A., Baverstock, G.C., van Ommen, G.J.B., Breuning, M.H.

مصطلحات موضوعية: ORIGINAL ARTICLE

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/2/10/1527; http://dx.doi.org/10.1093/hmg/2.10.1527

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/2/10/1527
https://doi.org/10.1093/hmg/2.10.1527

المؤلفون: Dunnen, J.T.Den, Grootscholten, P.M., Dauwerse, J.G., Walker, A.P., Monaco, A.P., Butler, R., Anand, R., Coffey, A.J., Bentley, D.R., Steensma, H.Y., ommen, G.J.B.Van

مصطلحات موضوعية: ORIGINAL ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/1/1/19; http://dx.doi.org/10.1093/hmg/1.1.19

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/1/1/19
https://doi.org/10.1093/hmg/1.1.19

المؤلفون: Wiegant, J., Kalle, W., Mullenders, L., Brookes, S., Hoovers, J.M.N., Dauwerse, J.G., van Ommen, G.J.B., Raap, A.K.

مصطلحات موضوعية: ORIGINAL ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/1/8/587; http://dx.doi.org/10.1093/hmg/1.8.587

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/1/8/587
https://doi.org/10.1093/hmg/1.8.587

المؤلفون: Dauwerse, J.G., Wiegant, J., Raap, A.K., Breuning, M.H., van Ommen, G.J.B.

مصطلحات موضوعية: ORIGINAL ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/1/8/593; http://dx.doi.org/10.1093/hmg/1.8.593

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/1/8/593
https://doi.org/10.1093/hmg/1.8.593

المؤلفون: Snijdewint, F.G.M., Saris, J.J., Dauwerse, J.G., Breuning, M.H., van Ommen, G.J.B.

مصطلحات موضوعية: HUMAN DNA MARKERS

وصف الملف: text/html

Relation: http://nar.oxfordjournals.org/cgi/content/short/18/10/3108-a; http://dx.doi.org/10.1093/nar/18.10.3108-a

الاتاحة: http://nar.oxfordjournals.org/cgi/content/short/18/10/3108-a
https://doi.org/10.1093/nar/18.10.3108-a

المؤلفون: Breuning, M.H., Snijdewint, F.G.M., Smits, J.R., Dauwerse, J.G., Saris, J.J., van Ommen, G.J.B.

مصطلحات موضوعية: HUMAN DNA MARKERS

وصف الملف: text/html

Relation: http://nar.oxfordjournals.org/cgi/content/short/18/10/3106-a; http://dx.doi.org/10.1093/nar/18.10.3106-a

الاتاحة: http://nar.oxfordjournals.org/cgi/content/short/18/10/3106-a
https://doi.org/10.1093/nar/18.10.3106-a

المؤلفون: Booij, T.H., Bange, H., Leonhard, W.N., Yan, K., Fokkelman, M., Kunnen, S.J., Dauwerse, J.G., Qin, Y., Water, B. van de, Westen, G.J.P. van, Peters, D.J.M., Price, L.S.

المصدر: Slas Discovery

وصف الملف: application/pdf

Relation: lucris-id: 76932465; https://hdl.handle.net/1887/57122

الاتاحة: https://hdl.handle.net/1887/57122
http://journals.sagepub.com/doi/abs/10.1177/2472555217716056
https://doi.org/10.1177/2472555217716056

المؤلفون: Dauwerse, J.G., Belzen, M. van, Haeringen, A. van, Santen, G. van, Lans, C. van de, Rahikkala, E., Garavelli, L., Breuning, M., Hennekam, R., Peters, D.

المصدر: European Journal of Human Genetics

Relation: lumc-id: 34360264; https://hdl.handle.net/1887/112912

الاتاحة: https://hdl.handle.net/1887/112912
https://doi.org/10.1038/ejhg.2016.47

المؤلفون: Goldfarb, A.M., Rutten, J.W., Dauwerse, J.G., Peters, D.J., Ommen, G.J. van, Aartsma-Rus, A.M., Oberstein, S.A.L.

المصدر: Molecular Biology of the Cell, 25

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e456bc82447213421160280eb6a1c83
https://hdl.handle.net/1887/107414

المؤلفون: Rutten, J.W., Boon, E.M.J., Liem, M.K., Dauwerse, J.G., Pont, M.J., Vollebregt, E., Maat-Kievit, A.J., Ginjaar, H.B., Lakeman, P., van Duinen, S.G., Terwindt, G.M., Oberstein, S.A.J.L.

المصدر: Rutten , J W , Boon , E M J , Liem , M K , Dauwerse , J G , Pont , M J , Vollebregt , E , Maat-Kievit , A J , Ginjaar , H B , Lakeman , P , van Duinen , S G , Terwindt , G M & Oberstein , S A J L 2013 , ' Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans ' , Human Mutation , vol. 34 , no. 11 , pp. 1486-1489 . https://doi.org/10.1002/humu.22432

الاتاحة: https://research.vumc.nl/en/publications/50fd58ac-5113-4638-b4d0-2c5503f5e18b
https://doi.org/10.1002/humu.22432

المؤلفون: Dauwerse, J.G., Dixon, J., Seland, S., Ruivenkamp, C.A., Haeringen, A. van, Hoefsloot, L.H., Peters, D.J., Boers, A.C., Daumer-Haas, C., Maiwald, R., Zweier, C., Kerr, B., Cobo, A.M., Toral, J.F., Hoogeboom, A.J.M., Lohmann, D.R., Hehr, U., Dixon, M.J., Breuning, M.H., Wieczorek, D.

المصدر: Nature Genetics, 43, 1, pp. 20-2

مصطلحات موضوعية: IGMD 3: Genomic disorders and inherited multi-system disorders

Relation: http://hdl.handle.net/2066/96129; https://doi.org/10.1038/ng.724

الاتاحة: http://hdl.handle.net/2066/96129
https://doi.org/10.1038/ng.724

المؤلفون: Gijsbers, A.C.J., Dauwerse, J.G., Bosch, C.A.J., Boon, E.M.J., Ende, W. van den, Kant, S.G., Hansson, K.M.B., Breuning, M.H., Bakker, E., Ruivenkamp, C.A.L.

المصدر: European Journal of Medical Genetics

مصطلحات موضوعية: Mosaicism Unbalanced autosomal reciprocal translocation structural rearrangement chimerism

Relation: lumc-id: 5065683; https://hdl.handle.net/1887/110494

الاتاحة: https://hdl.handle.net/1887/110494

المؤلفون: Lemmers, R.J., Vliet, P.J.C. Van, Klooster, R., Sacconi, S., Camano, P., Dauwerse, J.G., Snider, L., Straasheijm, K.R., Ommen, G.J.B. van, Padberg, G.W.A.M., Miller, D.G., Tapscott, S.J., Tawil, R., Frants, R.R., Maarel, S.M. van der

المصدر: Science, 329, 5999, pp. 1650-3

مصطلحات موضوعية: DCN 2: Functional Neurogenomics

Relation: http://hdl.handle.net/2066/87275; https://doi.org/10.1126/science.1189044

الاتاحة: http://hdl.handle.net/2066/87275
https://doi.org/10.1126/science.1189044

المؤلفون: Dauwerse, J.G., Ruivenkamp, C.A., Hansson, K., Marijnissen, G.M., Peters, D.J.M., Breuning, M.H., Hilhorst-Hofstee, Y.

المصدر: American Journal of Medical Genetics Part A

Relation: lumc-id: 5900000; https://hdl.handle.net/1887/119197

الاتاحة: https://hdl.handle.net/1887/119197
https://doi.org/10.1002/ajmg.a.33203

المؤلفون: Gijsbers, A.C.J., Bosch, C.A.J., Dauwerse, J.G., Giromus, O., Hansson, K., Hilhorst-Hofstee, Y., Kriek, M., Haeringen, A. van, Bijlsma, E.K., Bakker, E., Breuning, M.H., Ruivenkamp, C.A.L.

المصدر: European Journal of Medical Genetics

مصطلحات موضوعية: SNP array Mental retardation Balanced rearrangements CNV comparative genomic hybridization array-cgh de-novo chromosomal rearrangements clinical-significance dysmorphic features copy number retardation deletions abnormalities

Relation: lumc-id: 5644500; https://hdl.handle.net/1887/111634

الاتاحة: https://hdl.handle.net/1887/111634
https://doi.org/10.1016/j.ejmg.2010.06.003

المؤلفون: Dauwerse, J.G., Vries, B. de, Wouters, C.H., Bakker, E., Rappold, G.A., Mortier, G.R., Breuning, M.H., Peters, D.J.

المصدر: European Journal of Human Genetics, 15, 7, pp. 743-51

مصطلحات موضوعية: DCN 2: Functional Neurogenomics, IGMD 3: Genomic disorders and inherited multi-system disorders, UMCN 5.1: Genetic defects of metabolism

Relation: http://hdl.handle.net/2066/51498; https://doi.org/10.1038/sj.ejhg.5201833

الاتاحة: http://hdl.handle.net/2066/51498
https://doi.org/10.1038/sj.ejhg.5201833