المؤلفون: Verkerk, A., Andrei, D., Vermeer, M., Kramer, D., Schouten, M., Arp, P., Verlouw, J., Pas, H., Meijer, H., van der Molen, M., Oberdorf-Maass, S., Nijenhuis, M., Romero-Herrera, P., Hoes, M., Bremer, J., Slotman, J., van den Akker, C., P., Diercks, G., Giepmans, B., Stoop, H., Saris, J., van den Ouweland, M.W., A., Willemsen, R., Hublin, J., Dean, M., Hoogeboom, A., Silljé, H., Uitterlinden, A., van der Meer, P., Bolling, M.

المصدر: Journal of Investigative Dermatology

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000D-FD2D-5; http://hdl.handle.net/21.11116/0000-000D-FD2F-3

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-FD2D-5
http://hdl.handle.net/21.11116/0000-000D-FD2F-3

المؤلفون: Burghoorn, J, Dekkers, MPJ, Rademakers, S, de Jong, T, Willemsen, R, Swoboda, P, Jansen, G

المصدر: Journal of cell science. 123(12):2076-2083

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:120552733

المؤلفون: Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, NA, van der Linde, HC, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, EM, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, MT, Ruijter, GJG, Lütjohann, D, Jacobs, EH, Houlden, H, Pagnamenta, AT, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, TB, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, AM, Bauer, P, Bouman, A, Hoefsloot, LH, van Ham, TJ, Issa, M, Zaki, MS, Gleeson, JG, Willemsen, R, Kaya, N, Arold, ST, Maroofian, R, Sanderson, LE, Barakat, TS

المصدر: Acta Neuropathologica (2023) (In press).

مصطلحات موضوعية: AMFR, Cholesterol metabolism, Genetics, Hereditary spastic paraplegia, Neurology, Precision medicine, Statin, Whole genome sequencing, Zebrafish disease modeling

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf; https://discovery.ucl.ac.uk/id/eprint/10169693/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf
https://discovery.ucl.ac.uk/id/eprint/10169693/

المؤلفون: Buijsen, RAM, Visser, JA, Kramer, P, Severijnen, EAWFM, Gearing, M, Charlet-Berguerand, N, Sherman, SL, Berman, RF, Willemsen, R, Hukema, RK

المصدر: Human Reproduction. 31(1)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Rare Diseases, Fragile X Syndrome, Genetics, Neurosciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Animals, Ataxia, Disease Models, Animal, Female, Fragile X Mental Retardation Protein, Humans, Intranuclear Inclusion Bodies, Male, Mice, Mice, Inbred C57BL, Middle Aged, Mutation, Peptides, Primary Ovarian Insufficiency, Tremor, Trinucleotide Repeat Expansion, FXPOI, FMR1 premutation, FMRpolyG, RAN translation, inclusions, FXTAS, trinucleotide repeat expansion, CGG-repeat, ovarian failure, HPG-axis, Medical and Health Sciences, Studies in Human Society, Obstetrics & Reproductive Medicine, Reproductive medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9qw701fd

المؤلفون: Dunger, David B., Bruggraber, Sylvaine F. A., Mander, Adrian P., Marcovecchio, M. Loredana, Tree, Timothy, Chmura, Piotr Jaroslaw, Knip, Mikael, Schulte, Anke M., Mathieu, Chantal, Mathieu, C., Gillard, P., Casteels, K., Overbergh, L., Dunger, D., Wallace, C., Evans, M., Thankamony, A., Hendriks, E., Bruggraber, S., Peakman, M., Tree, T., Morgan, N., Richardson, S., Todd, J., Wicker, L., Mander, A., Dayan, C., Alhadj Ali, M., Pieber, T., Eizirik, D., Cnop, M., Brunak, S., Pociot, F., Johannesen, J., Rossing, P., Legido Quigley, C., Mallone, R., Scharfmann, R., Boitard, C., Knip, M., Otonkoski, T., Veijola, R., Lahesmaa, R., Oresic, M., Toppari, J., Danne, T., Ziegler, A. G., Achenbach, P., Rodriguez-Calvo, T., Solimena, M., Bonifacio, E., Speier, S., Holl, R., Dotta, F., Chiarelli, F., Marchetti, P., Bosi, E., Cianfarani, S., Ciampalini, P., de Beaufort, C., Dahl-Jørgensen, K., Skrivarhaug, T., Joner, G., Krogvold, L., Jarosz-Chobot, P., Battelino, T., Thorens, B., Gotthardt, M., Roep, B., Nikolic, T., Zaldumbide, A., Lernmark, A., Lundgren, M., Costecalde, G., Strube, T., Schulte, A., Nitsche, A., von Herrath, M., Wesley, J., Napolitano-Rosen, A., Thomas, M., Schloot, N., Goldfine, A., Waldron-Lynch, F., Kompa, J., Vedala, A., Hartmann, N., Nicolas, G., van Rampelbergh, J., Bovy, N., Dutta, S., Soderberg, J., Ahmed, S., Martin, F., Agiostratidou, G., Koralova, A., Willemsen, R., Smith, A., Anand, B., Puthi, V., Zac-Varghese, S., Datta, V., Dias, R., Sundaram, P., Vaidya, B., Patterson, C., Owen, K., Piel, B., Heller, S., Randell, T., Gazis, T., Bismuth Reismen, E., Carel, J-C, Riveline, J-P, Gautier, J-F, Andreelli, F., Travert, F., Cosson, E., Penfornis, A., Petit, C., Feve, B., Lucidarme, N., Beressi, J-P, Ajzenman, C., Radu, A., Greteau-Hamoumou, S., Bibal, C., Meissner, T., Heidtmann, B., Toni, S., Rami-Merhar, B., Eeckhout, B., Peene, B., Vantongerloo, N., Maes, T., Gommers, L., Marcovecchio, M.L., Vela, J., Latres, E.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/151830/1/s13063-022-06259-z.pdf; Dunger, David B., Bruggraber, Sylvaine F. A., Mander, Adrian P. https://orca.cardiff.ac.uk/view/cardiffauthors/A2472355M.html orcid:0000-0002-0742-9040 orcid:0000-0002-0742-9040, Marcovecchio, M. Loredana, Tree, Timothy, Chmura, Piotr Jaroslaw, Knip, Mikael, Schulte, Anke M., Mathieu, Chantal, Mathieu, C., Gillard, P., Casteels, K., Overbergh, L., Dunger, D., Wallace, C., Evans, M., Thankamony, A., Hendriks, E., Bruggraber, S., Peakman, M., Tree, T., Morgan, N., Richardson, S., Todd, J., Wicker, L., Mander, A. https://orca.cardiff.ac.uk/view/cardiffauthors/A2472355M.html orcid:0000-0002-0742-9040 orcid:0000-0002-0742-9040, Dayan, C., Alhadj Ali, M., Pieber, T., Eizirik, D., Cnop, M., Brunak, S., Pociot, F., Johannesen, J., Rossing, P., Legido Quigley, C., Mallone, R., Scharfmann, R., Boitard, C., Knip, M., Otonkoski, T., Veijola, R., Lahesmaa, R., Oresic, M., Toppari, J., Danne, T., Ziegler, A. G., Achenbach, P., Rodriguez-Calvo, T., Solimena, M., Bonifacio, E., Speier, S., Holl, R., Dotta, F., Chiarelli, F., Marchetti, P., Bosi, E., Cianfarani, S., Ciampalini, P., de Beaufort, C., Dahl-Jørgensen, K., Skrivarhaug, T., Joner, G., Krogvold, L., Jarosz-Chobot, P., Battelino, T., Thorens, B., Gotthardt, M., Roep, B., Nikolic, T., Zaldumbide, A., Lernmark, A., Lundgren, M., Costecalde, G., Strube, T., Schulte, A., Nitsche, A., von Herrath, M., Wesley, J., Napolitano-Rosen, A., Thomas, M., Schloot, N., Goldfine, A., Waldron-Lynch, F., Kompa, J., Vedala, A., Hartmann, N., Nicolas, G., van Rampelbergh, J., Bovy, N., Dutta, S., Soderberg, J., Ahmed, S., Martin, F., Agiostratidou, G., Koralova, A., Willemsen, R., Smith, A., Anand, B., Puthi, V., Zac-Varghese, S., Datta, V., Dias, R., Sundaram, P., Vaidya, B., Patterson, C., Owen, K., Piel, B., Heller, S., Randell, T., Gazis, T., Bismuth Reismen, E., Carel, J-C, Riveline, J-P, Gautier, J-F, Andreelli, F., Travert, F., Cosson, E., Penfornis, A., Petit, C., Feve, B., Lucidarme, N., Cosson, E., Beressi, J-P, Ajzenman, C., Radu, A., Greteau-Hamoumou, S., Bibal, C., Meissner, T., Heidtmann, B., Toni, S., Rami-Merhar, B., Eeckhout, B., Peene, B., Vantongerloo, N., Maes, T., Gommers, L., Marcovecchio, M.L., Vela, J. and Latres, E. 2022. INNODIA Master Protocol for the evaluation of investigational medicinal products in children, adolescents and adults with newly diagnosed type 1 diabetes. Trials 23 (1) , 414. 10.1186/s13063-022-06259-z https://doi.org/10.1186/s13063-022-06259-z file https://orca.cardiff.ac.uk/id/eprint/151830/1/s13063-022-06259-z.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/151830/
https://doi.org/10.1186/s13063-022-06259-z
https://orca.cardiff.ac.uk/id/eprint/151830/1/s13063-022-06259-z.pdf

المؤلفون: Dijkstra, Anke A., Haify, S.N.N. (Saif), Verwey, Niek A., Prins, Niels D., van der Toorn, E.C. (Esmay), Rozemuller, Annemieke J.M., Bugiani, Marianna, den Dunnen, Wilfred F.A., Todd, Peter K., Charlet-Berguerand, N. (Nicholas), Willemsen, R. (Rob), Hukema, RK (Renate), Hoozemans, JJM

المصدر: Dijkstra , A A , Haify , S N N , Verwey , N A , Prins , N D , van der Toorn , E C , Rozemuller , A J M , Bugiani , M , den Dunnen , W F A , Todd , P K , Charlet-Berguerand , N , Willemsen , R , Hukema , RK & Hoozemans , JJM 2021 , ' Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms ' , Brain communications , vol. 3 , no. 1 . https://doi.org/10.1093/braincomms/fcab007

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/557208f4-b697-4673-8fdc-dad63129a2b8
https://doi.org/10.1093/braincomms/fcab007
https://pure.eur.nl/ws/files/41962553/fcab007.pdf

المؤلفون: Willemsen, R. T. A., van ’t Hof, A. W. J.

المصدر: Netherlands Heart Journal ; volume 29, issue 6, page 309-310 ; ISSN 1568-5888 1876-6250

الاتاحة: http://dx.doi.org/10.1007/s12471-021-01589-0
https://link.springer.com/content/pdf/10.1007/s12471-021-01589-0.pdf
https://link.springer.com/article/10.1007/s12471-021-01589-0/fulltext.html

المؤلفون: Vaz RL, Sousa S, Chapela D, van der Linde HC, Willemsen R, Correia AD, Outeiro TF, Afonso ND

المصدر: Pharmacology Biochemistry and Behavior, February 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/262657; https://eprints.ncl.ac.uk/fulltext.aspx?url=262657/EF87663F-3C9F-4E2D-B9F7-54275CD96F8B.pdf&pub_id=262657

الاتاحة: https://eprints.ncl.ac.uk/262657

المؤلفون: Haify, S.N. (Saif N.), Mankoe, R.S.D. (Ruchira S. D.), Boumeester, V. (Valerie), van der Toorn, E.C. (Esmay C.), Verhagen, R.F.M. (Rob F.M.), Willemsen, R. (Rob), Hukema, R.K. (Renate), Bosman, L.W.J. (Laurens)

المصدر: Frontiers in Molecular Biosciences vol. 7

مصطلحات موضوعية: FMR1, FXTAS, mouse behavior, nuclear inclusions, repeat expansion

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/132907; urn:hdl:1765/132907

الاتاحة: http://repub.eur.nl/pub/132907
https://doi.org/10.3389/fmolb.2020.599101

المؤلفون: Van den Nieuwenhof, N, Willemsen, R T A, Konings, K T S, Stoffers, H E J H

المصدر: Van den Nieuwenhof , N , Willemsen , R T A , Konings , K T S & Stoffers , H E J H 2020 , ' Interpretations of and management actions following ECGs in programmatic cardiovascular care in primary care : A retrospective dossier study ' , Netherlands Heart Journal , vol. 28 , no. 4 , pp. 192-201 . https://doi.org/10.1007/s12471-020-01376-3

مصطلحات موضوعية: ACC/AHA COMMITTEE, ACCURACY, AMBULATORY ELECTROCARDIOGRAPHY, ASIM TASK-FORCE, CARDIAC DISORDERS, CLINICAL COMPETENCE STATEMENT, CORONARY-HEART-DISEASE, Clinical competence, DEVELOP, Electrocardiography, General practice, Preventive health services, Quality of health care, RESIDENTS, Retrospective studies

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/cdfe31bb-545c-4e04-9424-07a223f4515c
https://doi.org/10.1007/s12471-020-01376-3

المؤلفون: Quint, W.H., Tadema, K.C.D., Kokke, N.C.C.J., Meester-Smoor, M.A., Miller, A.C., Willemsen, R., Klaver, C.C.W., Iglesias, A.I.

المصدر: Scientific Reports; 2045-2322; 1; 13; 2017; ~Scientific Reports~~~~~2045-2322~1~13~~2017

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/291039/291039.pdf
https://repository.ubn.ru.nl/handle/2066/291039

المؤلفون: Quint, W.H., Buuren, Renee van, Kokke, N.C.C.J., Meester-Smoor, M.A., Willemsen, R., Broersma, Remy, Lucassen, Marcel, Klaver, C.C.W.

المصدر: Experimental Eye Research; 0014-4835; 230; 109437; ~Experimental Eye Research~~~~~0014-4835~~230~~109437

URL: https://repository.ubn.ru.nl/handle/2066/292078

المؤلفون: Wenzel, H.J. (Jürgen), Murray, K. (K.), Haify, S.N., Hunsaker, M.R. (Michael), Schwartzer, J.J., Kim, Y-J. (Yong-Jin), La Spada, AR, Sopher, B.L., Hagerman, P.J. (Paul), Raske, C. (Christopher), Severijnen, L.A. (Lies Anne), Willemsen, R. (Rob), Hukema, R.K. (Renate), Berman, R.F. (Robert)

المصدر: Acta neuropathologica communications (online) vol. 7

مصطلحات موضوعية: FXTAS, Fragile X premutation, Mouse model, Neurodegeneration, Glia, RAN translation, FMRpolyG, Non-cellautonomous, Electron microscopy of inclusions

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/115514; urn:hdl:1765/115514

الاتاحة: http://repub.eur.nl/pub/115514
https://doi.org/10.1186/s40478-019-0677-7

المؤلفون: Drozd, M. (Malgorzata), Delhaye, S. (Sébastien), Maurin, T. (Thomas), Castagnola, S. (Sara), Grossi, M. (Mauro), Brau, F. (Frédéric), Jarjat, M. (Marielle), Willemsen, R. (Rob), Capovilla, M. (Maria), Hukema, R.K. (Renate), Lalli, E. (Enzo), Bardoni, B. (Barbara)

المصدر: Molecular Therapy - Nucleic Acids vol. 18, pp. 546-553

مصطلحات موضوعية: Aldh4a1/P5CDH, dendritic arborization, dendrtic spine, Fmr1 mRNA, FXTAS, Hnrnpll, premutation, ROAA, Tia1

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/120593; urn:hdl:1765/120593

الاتاحة: http://repub.eur.nl/pub/120593
https://doi.org/10.1016/j.omtn.2019.09.018

المؤلفون: Riemslagh, F.W., Lans, H. (Hannes), Seelaar, H. (Harro), Severijnen, L., Melhem, S., Vermeulen, W. (Wim), Aronica, E.M.A. (Eleonora), Pasterkamp, R.J. (Jeroen), Swieten, J.C. (John) van, Willemsen, R. (Rob)

المصدر: Acta neuropathologica communications (online) vol. 7

مصطلحات موضوعية: C9ORF72, ALS, FTD, HR23B, ERAD, NGly1, DPRs, Poly-GA

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/116311; urn:hdl:1765/116311

الاتاحة: http://repub.eur.nl/pub/116311
https://doi.org/10.1186/s40478-019-0694-6

المؤلفون: Wagenvoort, L. M. E., Willemsen, R. T. A., Konings, K. T. S., Stoffers, H. E. J. H.

المصدر: Wagenvoort , L M E , Willemsen , R T A , Konings , K T S & Stoffers , H E J H 2019 , ' Interpretations of and management actions following electrocardiograms in symptomatic patients in primary care : a retrospective dossier study ' , Netherlands Heart Journal , vol. 27 , no. 10 , pp. 498-505 . https://doi.org/10.1007/s12471-019-01306-y

مصطلحات موضوعية: Electrocardiography, General practice, Quality of health care, Clinical skills, Diagnosis, Cross-sectional studies, ATRIAL-FIBRILLATION, PRACTITIONERS, ACCURACY, ECG, ARRHYTHMIAS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f4094e01-b817-4d31-bf29-c6b456cdf337
https://doi.org/10.1007/s12471-019-01306-y

المؤلفون: Silva, C, Zorkoltseva, I, Amin, N, Demirkan, A, Van Leeuwen, E, Kors, J, Van Den Berg, M, Stricker, B, Uitterlinden, A, Kirichenko, A, Witteman, J, Willemsen, R, Oostra, B, Axenovich, T, Van Duijn, C, Isaacs, A

Relation: https://ora.ox.ac.uk/objects/uuid:df528812-0b24-44d7-bbe1-2bcabfbd1f91; https://doi.org/10.3389/fgene.2016.00190

الاتاحة: https://doi.org/10.3389/fgene.2016.00190
https://ora.ox.ac.uk/objects/uuid:df528812-0b24-44d7-bbe1-2bcabfbd1f91

المؤلفون: Silva, C, Zorkoltseva, I, Niemeijer, M, Van Den Berg, M, Amin, N, Demirkan, A, Van Leeuwen, E, Iglesias, A, Piñeros-Hernández, L, Restrepo, C, Kors, J, Kirichenko, A, Willemsen, R, Oostra, B, Stricker, B, Uitterlinden, A, Axenovich, T, Van Duijn, C, Isaacs, A

Relation: https://ora.ox.ac.uk/objects/uuid:93d16f29-74a0-428e-830c-bfb1f4e276e1; https://doi.org/10.1186/s12920-018-0339-9

الاتاحة: https://doi.org/10.1186/s12920-018-0339-9
https://ora.ox.ac.uk/objects/uuid:93d16f29-74a0-428e-830c-bfb1f4e276e1

المؤلفون: Willemsen, R, Burling, K, Barker, P, Ackland, F, Dias, R, Edge, J, Smith, A, Todd, J, Lopez, B, Mander, A, Guy, C, Dunger, D

Relation: https://ora.ox.ac.uk/objects/uuid:511cf169-167b-4786-aab1-81dfadcd105d; https://doi.org/10.1210/jc.2018-00500

الاتاحة: https://doi.org/10.1210/jc.2018-00500
https://ora.ox.ac.uk/objects/uuid:511cf169-167b-4786-aab1-81dfadcd105d

المؤلفون: Manten, A., Bulk, S. van den, Rutten, F. H., Willemsen, R. T. A., Bonten, T. N., Harskamp, R. E.

المصدر: Nederlands Tijdschrift voor Geneeskunde

وصف الملف: application/pdf

Relation: lumc-id: 184658160; https://hdl.handle.net/1887/3775065

الاتاحة: https://hdl.handle.net/1887/3775065