المؤلفون: Reijnders, MRF, Zachariadis, V, Latour, B, Jolly, L, Mancini, GM, Pfundt, R, Wu, KM, van Ravenswaaij-Arts, CMA, Veenstra-Knol, HE, Anderlid, BMM, Wood, SA, Cheung, SW, Barnicoat, A, Probst, F, Magoulas, P, Brooks, AS, Malmgren, H, Harila-Saari, A, Marcelis, CM, Vreeburg, M, Hobson, E, Sutton, VR, Stark, Z, Vogt, J, Cooper, N, Lim, JY, Price, S, Lai, AHM, Domingo, D, Reversade, B, Gecz, J, Gilissen, C, Brunner, HG, Kini, U, Roepman, R, Nordgren, A, Kleefstra, T

المصدر: American journal of human genetics. 98(2):373-381

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:132983542

المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., Frederix, G. W.J., Oegema, R.

المصدر: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , ....

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3

الاتاحة: https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3
https://doi.org/10.1007/s00431-023-04909-1
https://pure.eur.nl/ws/files/90570361/Rapid_exome_sequencing_as_a_first_tier_test_in_neonates_with_suspected_genetic_disorder_results_of_a_prospective_multicenter_clinical_utility_study_in_the_Netherlands.pdf
http://www.scopus.com/inward/record.url?scp=85151442453&partnerID=8YFLogxK

المؤلفون: Rossel, S V J, Clabbers, J M K, Steijlen, P M, van den Akker, P C, Spuls, P I, Middelkamp Hup, M A, van Maarle, M C, Vreeburg, M, Bolling, M C, van Geel, M, Gostyński, A

المصدر: Rossel , S V J , Clabbers , J M K , Steijlen , P M , van den Akker , P C , Spuls , P I , Middelkamp Hup , M A , van Maarle , M C , Vreeburg , M , Bolling , M C , van Geel , M & Gostyński , A 2023 , ' Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions ' , Journal of the European Academy of Dermatology and Venereology , vol. ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1e343636-55fe-4946-ad27-3e4be3d46094
https://research.rug.nl/en/publications/1e343636-55fe-4946-ad27-3e4be3d46094
https://doi.org/10.1111/jdv.19340
https://pure.rug.nl/ws/files/897619198/Acad_Dermatol_Venereol_-_2023_-_Rossel_-_Expanding_the_molecular_and_clinical_spectrum_of_autosomal_recessive_congenital.pdf

المؤلفون: Rossel, V., Clabbers, J., Steijlen, P., van den Akker, P., Spuls, P., Middelkamp-Hup, M., van Maarle, M., Vreeburg, M., Bolling, M., van Geel, M., Gostynski, A.

المصدر: Journal of Investigative Dermatology ; volume 143, issue 5, page S141 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2023.03.834
https://api.elsevier.com/content/article/PII:S0022202X23010096?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X23010096?httpAccept=text/plain

المؤلفون: Rossel, V., Baniel, A., Wertheim-Tysarowska, K., Seyger, M., Spruijt, L., Bekkenk, M., Vreeburg, M., Sprecher, E., Steijlen, P., van Geel, M., Gostynski, A.

المصدر: Journal of Investigative Dermatology ; volume 143, issue 5, page S141 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2023.03.829
https://api.elsevier.com/content/article/PII:S0022202X23010047?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X23010047?httpAccept=text/plain

المؤلفون: Clabbers, J M K, Roemen, G M J M, Rajan, N, Shah, A, Woo, P, Arefi, M, Vreeburg, M, Steijlen, P M, Gostynski, A, van Geel, M

المصدر: Clabbers , J M K , Roemen , G M J M , Rajan , N , Shah , A , Woo , P , Arefi , M , Vreeburg , M , Steijlen , P M , Gostynski , A & van Geel , M 2024 , ' HRAS mosaicism in linear palmoplantar keratoderma ' , Journal of the European Academy of Dermatology and Venereology , vol. 38 , no. 5 , pp. e382-e384 . https://doi.org/10.1111/jdv.19613

Relation: https://cris.maastrichtuniversity.nl/en/publications/e0ef08d9-3588-4ac1-9c34-34a9ede87465

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/e0ef08d9-3588-4ac1-9c34-34a9ede87465
https://doi.org/10.1111/jdv.19613

المؤلفون: Avitan, O., Van Maaren, L.C., Vreeburg, M., Bekers, E., Van Der Poel, H., Brouwer, O.

المصدر: European Urology ; volume 85, page S1143 ; ISSN 0302-2838

الاتاحة: http://dx.doi.org/10.1016/s0302-2838(24)00916-3
https://api.elsevier.com/content/article/PII:S0302283824009163?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0302283824009163?httpAccept=text/plain

المؤلفون: Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E.P., van Oosterhoud, C. N., Claes, K. B.M., Paulussen, A. D.C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T.R.M., Broen, M. P.G., Spruijt, L., Jongmans, M. C.J., Lesnik Oberstein, S. A.J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W.J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.

المساهمون: CMM Groep Cuppen, MS Urologische Oncologie, Cancer, Genetica, Genetica Klinische Genetica, Child Health, Psychosociale zorg patientenzorg, Other research (not in main researchprogram)

مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/444287

الاتاحة: https://dspace.library.uu.nl/handle/1874/444287

المؤلفون: 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.

المصدر: British Journal of Dermatology ; volume 186, issue 2, page 215-226 ; ISSN 0007-0963 1365-2133

الاتاحة: http://dx.doi.org/10.1111/bjd.20700
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.20700
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/bjd.20700

المؤلفون: Clabbers, J.M., van Oosten, N., Vreeburg, M., van Geel, M., Gostynski, A.

المصدر: Journal of Investigative Dermatology ; volume 141, issue 10, page S180 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2021.08.189
https://api.elsevier.com/content/article/PII:S0022202X21018789?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X21018789?httpAccept=text/plain

المؤلفون: Nagtzaam, I.F., van Leersum, F.S., Kouwenberg, L.C., Vreeburg, M., Steijlen, P., Gostynski, A., van Geel, M.

المصدر: Journal of Investigative Dermatology ; volume 141, issue 10, page S179 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2021.08.186
https://api.elsevier.com/content/article/PII:S0022202X21018753?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X21018753?httpAccept=text/plain

المؤلفون: Elst, L., Vreeburg, M., De Vries, H. M., Murphy, T., Churchill, James, Fallara, G., Sanchez, D., Falcone, M., Garcia-Perdomo, H. A., Pettaway, C., Hakenberg, O., Johnstone, P., Spiess, P. E., Muneer, A., Sangar, Vijay K, Parnham, Arie S, Ayres, B., Watkin, N., Brouwer, O. R., Albersen, M.

المساهمون: University Hospitals Leuven, Dept. of Urology, Leuven, Belgium

Relation: Elst L, Vreeburg M, De Vries HM, Murphy T, Churchill J, Fallara G, et al. Corporal skip metastases in penile squamous cell carcinoma: An unknown and distinct pattern of spread with poor prognosis. European Urology. 2023 Feb;83:S904-S5. PubMed PMID: WOS:000991496000625.; http://hdl.handle.net/10541/626394; European Urology

الاتاحة: http://hdl.handle.net/10541/626394

المؤلفون: Jacobs, C J, Vreeburg, M, de Die-Smulders, C E M, Staal, H M, Lauwers, T

المصدر: Jacobs , C J , Vreeburg , M , de Die-Smulders , C E M , Staal , H M & Lauwers , T 2020 , ' Surgical management for isolated macrodactyly in an adult PIK3CA mutant ' , JPRAS Open , vol. 26 , pp. 86-90 . https://doi.org/10.1016/j.jpra.2020.10.002

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/14163deb-d84c-4c36-8b0a-89336f54ba33
https://doi.org/10.1016/j.jpra.2020.10.002

المؤلفون: Knijnenburg, A.C.S., Nicolai, J., Bok, L.A., Bay, A., Stegmann, A.P.A., Sinnema, M., Vreeburg, M.

المصدر: Knijnenburg , A C S , Nicolai , J , Bok , L A , Bay , A , Stegmann , A P A , Sinnema , M & Vreeburg , M 2020 , ' Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation ' , Neurology. Genetics , vol. 6 , no. 3 , 418 . https://doi.org/10.1212/NXG.0000000000000418

مصطلحات موضوعية: influenza, polymorphism

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/8e4c9b13-6e26-4edc-90de-ecd014ec4cb7
https://doi.org/10.1212/NXG.0000000000000418

المؤلفون: Olde Keizer, R.A.C.M., Marouane, A., Kerstjens-Frederikse, W.S., Deden, A.C., Lichtenbelt, K.D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., Vries, L.S. de, Sinke, R.J., Pfundt, R.P., Stevens, S.J.C., Andriessen, P., Lingen, R.A. van, Nelen, M.R., Scheffer, H., Stemkens, D., Oosterwijk, C., Ploos van Amstel, H.K., Boode, W.P. de, Zelst-Stams, W.A.G. van, Frederix, G.W., Vissers, L.E.L.M.

المصدر: European Journal of Pediatrics; 2683; 2692; 0340-6199; 6; 182; ~European Journal of Pediatrics~2683~2692~~~0340-6199~6~182~~

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/293809/293809.pdf
https://repository.ubn.ru.nl/handle/2066/293809

المؤلفون: Rossel, S. V. J., Clabbers, J. M. K., Steijlen, P. M., van den Akker, P. C., Spuls, P. I., Middelkamp Hup, M. A., van Maarle, M. C., Vreeburg, M., Bolling, M. C., van Geel, M., Gostyński, A.

المصدر: Journal of the European Academy of Dermatology & Venereology; Dec2023, Vol. 37 Issue 12, pe1405-e1409, 5p

مصطلحات موضوعية: ICHTHYOSIS, MOLECULAR spectra, PALMOPLANTAR keratoderma, RECESSIVE genes, GENETIC variation, GENETIC mutation, ITCHING

المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., de Vries, L. S., Frederix, G. W.J., Oegema, R.

المساهمون: Clinical Genetics, Pediatric Surgery, Radiology & Nuclear Medicine, Internal Medicine, Department of Finance, Cell biology, Cardiothoracic Surgery, Molecular Genetics, Pathology, Erasmus School of Law, Health Economics (HE)

المصدر: European Journal of Pediatrics. Springer-Verlag

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::afa0a389c2188bae2fdfdb912053777e
https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3

المؤلفون: Arts, P, Simons, A, AlZahrani, MS, Yilmaz, E, AlIdrissi, E, van Aerde, KJ, Alenezi, N, AlGhamdi, HA, AlJubab, HA, Al-Hussaini, AA, AlManjomi, F, Alsaad, AB, Alsaleem, B, Andijani, AA, Asery, A, Ballourah, W, Bleeker-Rovers, CP, van Deuren, M, Flier, Michiel, Gerkes, E H, Gilissen, C, Habazi, MK, Hehir-Kwa, JY, Henriet, SS, Hoppenreijs, EP, Hortillosa, S, Kerkhofs, CH, Keski-Filppula, R, Lelieveld, SH, Lone, K, MacKenzie, MA, Mensenkamp, AR, Moilanen, J, Nelen, M, ten Oever, J, Potjewijd, J, van Paassen, P, Schuurs-Hoeijmakers, JHM, Simon, A, Stokowy, T, van de Vorst, M, Vreeburg, M, Wagner, Anja, van Well, GTJ, Zafeiropoulou, D, Zonneveld-Huijssoon, E, Veltman, JA, van Zelst-Stams, W A G, Faqeih, EA, van de Veerdonk, FL, Netea, MG, Hoischen, A

المصدر: Arts , P , Simons , A , AlZahrani , MS , Yilmaz , E , AlIdrissi , E , van Aerde , KJ , Alenezi , N , AlGhamdi , HA , AlJubab , HA , Al-Hussaini , AA , AlManjomi , F , Alsaad , AB , Alsaleem , B , Andijani , AA , Asery , A , Ballourah , W , Bleeker-Rovers , CP , van Deuren , M , Flier , M , Gerkes , E H , Gilissen , C , Habazi , MK , Hehir-Kwa , JY , Henriet , SS , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/259e9689-8859-4b63-ab2a-f79fa62fef50
https://doi.org/10.1186/s13073-019-0649-3
https://pure.eur.nl/ws/files/48207522/Repub_117385_O-A.pdf
http://hdl.handle.net/1765/117385

المؤلفون: Arts, P. (Peer), Simons, A. (Annet), AlZahrani, M. S. (Mofareh S.), Yilmaz, E. (Elanur), AlIdrissi, E. (Eman), van Aerde, K. J. (Koen J.), Alenezi, N. (Njood), AlGhamdi, H. A. (Hamza A.), AlJubab, H. A. (Hadeel A.), Al-Hussaini, A. A. (Abdulrahman A.), AlManjomi, F. (Fahad), Alsaad, A. B. (Alaa B.), Alsaleem, B. (Badr), Andijani, A. A. (Abdulrahman A.), Asery, A. (Ali), Ballourah, W. (Walid), Bleeker-Rovers, C. P. (Chantal P.), van Deuren, M. (Marcel), van der Flier, M. (Michiel), Gerkes, E. H. (Erica H.), Gilissen, C. (Christian), Habazi, M. K. (Murad K.), Hehir-Kwa, J. Y. (Jayne Y.), Henriet, S. S. (Stefanie S.), Hoppenreijs, E. P. (Esther P.), Hortillosa, S. (Sarah), Kerkhofs, C. H. (Chantal H.), Keski-Filppula, R. (Riikka), Lelieveld, S. H. (Stefan H.), Lone, K. (Khurram), MacKenzie, M. A. (Marius A.), Mensenkamp, A. R. (Arjen R.), Moilanen, J. (Jukka), Nelen, M. (Marcel), ten Oever, J. (Jaap), Potjewijd, J. (Judith), van Paassen, P. (Pieter), Schuurs-Hoeijmakers, J. H. (Janneke H. M.), Simon, A. (Anna), Stokowy, T. (Tomasz), van de Vorst, M. (Maartje), Vreeburg, M. (Maaike), Wagner, A. (Anja), van Well, G. T. (Gijs T. J.), Zafeiropoulou, D. (Dimitra), Zonneveld-Huijssoon, E. (Evelien), Veltman, J. A. (Joris A.), van Zelst-Stams, W. A. (Wendy A. G.), Faqeih, E. A. (Eissa A.), van de Veerdonk, F. L. (Frank L.), Netea, M. G. (Mihai G.), Hoischen, A. (Alexander)

مصطلحات موضوعية: Exome sequencing, Genetic diagnosis, Primary immunodeficiencies, Routine diagnostics

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2020042822775

المؤلفون: van Leersum, F. S., Potjewijd, J., van Geel, M., Steijlen, P. M., Vreeburg, M.

المصدر: van Leersum , F S , Potjewijd , J , van Geel , M , Steijlen , P M & Vreeburg , M 2019 , ' Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease ' , Orphanet Journal of Rare Diseases , vol. 14 , 151 . https://doi.org/10.1186/s13023-019-1117-2

مصطلحات موضوعية: Schnitzler's syndrome, Waldenstroms macroglobulinemia, Autoinflammatory disease, Hypothesis, Interleukin-1, MYD88, NLRP3, FOLLOW-UP, IGM

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/8cbba0ed-e45a-4f52-8431-efb0b8e1589a
https://doi.org/10.1186/s13023-019-1117-2