المؤلفون: Wijmenga, C, Hansen, RS, Gimelli, G, Bjorck, EJ, Davies, EG, Valentine, D, Belohradsky, BH, van Dongen, JJ, Smeets, DFCM, van den Heuvel, LPWJ, Luyten, JAFM, Strengman, E, Weemaes, C, Pearson, PL

المصدر: Human mutation. 16(6):509-517

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1950422

المؤلفون: Schoenaker, M. H.D., Takada, S., van Deuren, M., Dommering, C. J., Henriët, S. S.V., Pico, I., Vogel, W. V., Weemaes, C. M.R., Willemsen, M. A.A.P., van der Burg, M., Kaanders, J. H.A.M.

المصدر: Schoenaker , M H D , Takada , S , van Deuren , M , Dommering , C J , Henriët , S S V , Pico , I , Vogel , W V , Weemaes , C M R , Willemsen , M A A P , van der Burg , M & Kaanders , J H A M 2021 , ' Considerations for radiotherapy in Bloom Syndrome : A case series ' , European Journal of Medical Genetics , vol. 64 , no. 10 , 104293 . https://doi.org/10.1016/j.ejmg.2021.104293

الاتاحة: https://research.vumc.nl/en/publications/fd5d73b2-e076-45b1-acd5-af170ffdf0e3
https://doi.org/10.1016/j.ejmg.2021.104293
http://www.scopus.com/inward/record.url?scp=85112483430&partnerID=8YFLogxK

المؤلفون: Garrelfs, M.R., Takada, S., Kamsteeg, E.J. (Erik-Jan), Pegge, S., Mancini, G.M.S. (Grazia), Engelen, M. (Marc), van de Warrenburg, B, Rennings, A., van Gaalen, J., Peters, I., Weemaes, C., Burg, M. (Mirjam) van der, Willemsen, M.C. (M. C.)

المصدر: Pediatric Neurology vol. 113, pp. 26-32

مصطلحات موضوعية: PNKP Polynucleotide kinase 30, phosphatase, AOA4 ataxia with oculomotor apraxia type 4, MCSZ microcephaly, seizures and developmental delay, DNA repair, Immunodeficiency

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/133686; urn:hdl:1765/133686

الاتاحة: http://repub.eur.nl/pub/133686
https://doi.org/10.1016/j.pediatrneurol.2020.07.014

المؤلفون: Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., Willemsen, M. A. A. P.

المساهمون: Action for A-T, ZonMW

المصدر: European Journal of Pediatrics ; volume 179, issue 2, page 251-256 ; ISSN 0340-6199 1432-1076

الاتاحة: http://dx.doi.org/10.1007/s00431-019-03479-5
http://link.springer.com/content/pdf/10.1007/s00431-019-03479-5.pdf
http://link.springer.com/article/10.1007/s00431-019-03479-5/fulltext.html

المؤلفون: Weitering, T. J., Willemsen, M. A. A. P., Taylor, A. M. R., Weemaes, C. M. R., van der Burg, M., Berghuis, Dagmar

المساهمون: Leids Universitair Medisch Centrum

المصدر: Journal of Clinical Immunology ; volume 43, issue 8, page 1770-1773 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-023-01571-y
https://link.springer.com/content/pdf/10.1007/s10875-023-01571-y.pdf
https://link.springer.com/article/10.1007/s10875-023-01571-y/fulltext.html

المؤلفون: IJspeert, H, Lankester, A C, van den Berg, J M, Wiegant, W, van Zelm, M C, Weemaes, C M R, Warris, A, Pan-Hammarström, Q, Pastink, A, van Tol, M J D, van Dongen, J J M, van Gent, D C, van der Burg, M

المصدر: Genes & Immunity ; volume 12, issue 6, page 434-444 ; ISSN 1466-4879 1476-5470

الاتاحة: http://dx.doi.org/10.1038/gene.2011.16
https://www.nature.com/articles/gene201116.pdf
https://www.nature.com/articles/gene201116

المؤلفون: Noordzij, J G, Wulffraat, N M, Haraldsson, Á, Meyts, I, Veer, L J van’t, Hogervorst, F B L, Warris, A, Weemaes, C M R

مصطلحات موضوعية: Short report

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/94/6/448; http://dx.doi.org/10.1136/adc.2008.149351

الاتاحة: http://adc.bmj.com/cgi/content/short/94/6/448
https://doi.org/10.1136/adc.2008.149351

المؤلفون: Petru, R, Neeleman, C, van Deuren, M, Sturm, P, Weemaes, C, van der Hoeven, J G

مصطلحات موضوعية: Sepsis and multi-organ failure

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/93/2_MeetingAbstracts/pw503

الاتاحة: http://adc.bmj.com/cgi/content/short/93/2_MeetingAbstracts/pw503

المؤلفون: Hagleitner, M M, Lankester, A, Maraschio, P, Hultén, M, Fryns, J P, Schuetz, C, Gimelli, G, Davies, E G, Gennery, A, Belohradsky, B H, de Groot, R, Gerritsen, E J A, Mattina, T, Howard, P J, Fasth, A, Reisli, I, Furthner, D, Slatter, M A, Cant, A J, Cazzola, G, van Dijken, P J, van Deuren, M, de Greef, J C, van der Maarel, S M, Weemaes, C M R

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/45/2/93; http://dx.doi.org/10.1136/jmg.2007.053397

الاتاحة: http://jmg.bmj.com/cgi/content/short/45/2/93
https://doi.org/10.1136/jmg.2007.053397

المؤلفون: VAN DER MEER, J. W. M., WEEMAES, C. M. R., VAN KRIEKEN, J. H., BLOMJOUS, C. E. M., VAN DIE, C. E., NETEA, M. G., BREDIE, S. J. H.

المصدر: Journal of Internal Medicine ; volume 259, issue 6, page 615-618 ; ISSN 0954-6820 1365-2796

الاتاحة: http://dx.doi.org/10.1111/j.1365-2796.2006.01653.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2796.2006.01653.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2796.2006.01653.x

المؤلفون: Fraaij, P. L. A., Verweel, G., van Rossum, A. M. C., van Lochem, E. G., Schutten, M., Weemaes, C. M. R., Hartwig, N. G., Burger, D. M., de Groot, R.

المصدر: Clinical Infectious Diseases ; volume 40, issue 4, page 604-608 ; ISSN 1058-4838 1537-6591

الاتاحة: http://dx.doi.org/10.1086/427696
http://academic.oup.com/cid/article-pdf/40/4/604/1014236/40-4-604.pdf

المؤلفون: Weemaes, C., Klasen, I., Göertz, J., Beldhuis‐Valkis, M., Olafsson, O., Haraldsson, A.

المصدر: Scandinavian Journal of Immunology ; volume 58, issue 6, page 642-648 ; ISSN 0300-9475 1365-3083

الاتاحة: http://dx.doi.org/10.1111/j.1365-3083.2003.01344.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-3083.2003.01344.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-3083.2003.01344.x

المؤلفون: GUDMUNDSSON, K O, SIGURJONSSON, O E, GUDMUNDSSON, S, GOLDBLATT, D, WEEMAES, C M R, HARALDSSON, A

المصدر: Clinical and Experimental Immunology ; volume 128, issue 3, page 532-537 ; ISSN 0009-9104 1365-2249

الاتاحة: https://doi.org/10.1046/j.1365-2249.2002.01870.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2249.2002.01870.x
https://academic.oup.com/cei/article-pdf/128/3/532/42139534/j.1365-2249.2002.01870.x.pdf

المؤلفون: Gudmundsson, K O, Sigurjonsson, O E, Gudmundsson, S, Goldblatt, D, Weemaes, C M R, Haraldsson, A

المصدر: Clinical and Experimental Immunology ; volume 129, issue 3, page 572-572 ; ISSN 0009-9104 1365-2249

مصطلحات موضوعية: Immunology, Immunology and Allergy

الاتاحة: http://dx.doi.org/10.1046/j.1365-2249.2002.t01-2-00001.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2249.2002.t01-2-00001.x
https://academic.oup.com/cei/article-pdf/129/3/572/42140164/j.1365-2249.2002.t01-2-00001.x.pdf

المؤلفون: Frenkel, J, Willemsen, M A A P, Weemaes, C M R, Dorland, L, Mayatepek, E

مصطلحات موضوعية: General and acute paediatrics

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/85/2/158; http://dx.doi.org/10.1136/adc.85.2.158

الاتاحة: http://adc.bmj.com/cgi/content/short/85/2/158
https://doi.org/10.1136/adc.85.2.158

المؤلفون: Hiel, J A P, Weemaes, C M R, van Engelen, B G M, Smeets, D, Ligtenberg, M, van der Burgt, I, van den Heuvel, L P W J, Cerosaletti, K M, Gabreëls, F J M, Concannon, P

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/38/6/e19; http://dx.doi.org/10.1136/jmg.38.6.e19

الاتاحة: http://jmg.bmj.com/cgi/content/short/38/6/e19
https://doi.org/10.1136/jmg.38.6.e19

المؤلفون: Garrelfs, MR, Takada, S, Kamsteeg, EJ, Pegge, S, Verheijen - Mancini, Grazia, Engelen, M, van de Warrenburg, B, Rennings, A, van Gaalen, J, Peters, I, Weemaes, C, Burg, M, Willemsen, M

المصدر: Garrelfs , MR , Takada , S , Kamsteeg , EJ , Pegge , S , Verheijen - Mancini , G , Engelen , M , van de Warrenburg , B , Rennings , A , van Gaalen , J , Peters , I , Weemaes , C , Burg , M & Willemsen , M 2020 , ' The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort ' , Pediatric Neurology , vol. 113 , pp. 26-32 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, article

URL: https://pure.eur.nl/en/publications/3d526d6f-aab8-4e2f-89c5-b8f8e057300e

المؤلفون: Weemaes, C., Ooms, V., Indrawati, Ludikhuyze, L., Van den Broeck, I., Van Loey, A., Hendrickx, M.

المصدر: Journal of Food Science ; volume 64, issue 3, page 504-508 ; ISSN 0022-1147 1750-3841

الاتاحة: https://doi.org/10.1111/j.1365-2621.1999.tb15072.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2621.1999.tb15072.x
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2621.1999.tb15072.x/fullpdf

المؤلفون: Weemaes, C

المصدر: Pediatric Research ; volume 45, page 757-757 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199905010-00119

المؤلفون: Weemaes, C, Haraldsson, A, Goertz, J, Klasen, I

المصدر: Pediatric Research ; volume 45, page 758-758 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199905010-00120