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1Academic Journal
المؤلفون: Smith, FJD, Liao, HH, Cassidy, AJ, Stewart, A, Hamill, KJ, Wood, P, Joval, I, van Steensel, MAM, Bjorck, E, Callif-Daley, F, Pals, G, Collins, P, Leachman, SA, Munro, CS, McLean, WHI
المصدر: The journal of investigative dermatology. Symposium proceedings. 10(1):21-30
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Verdonk, S. J. E., Storoni, S., Zhytnik, L., Zhong, W., Pals, G., van Royen, B. J., Elting, M. W., Maugeri, A., Eekhoff, E. M. W., Micha, D.
المصدر: Verdonk , S J E , Storoni , S , Zhytnik , L , Zhong , W , Pals , G , van Royen , B J , Elting , M W , Maugeri , A , Eekhoff , E M W & Micha , D 2023 , ' Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1 ' , Calcified Tissue International , vol. 113 , no. 2 , pp. 186-194 . https://doi.org/10.1007/s00223-023-01101-3
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3Academic Journal
المؤلفون: Zhytnik, L., Duy, B.H., Eekhoff, M., Wisse, L., Pals, G., Reimann, E., Kõks, S., Märtson, A., Maugeri, A., Maasalu, K., Micha, D.
وصف الملف: pdf
Relation: ispartof: Genes issue 3 vol 13; WOS:000775276900001; https://doi.org/10.3390/genes13030407; 991005544484407891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Phenotypic-variation-in-Vietnamese-osteogenesis-imperfecta/991005544484407891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12136426170007891/13136771060007891; alma:61MUN_INST/bibs/991005544484407891
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4Academic Journal
المؤلفون: de Ruiter R. D., Smilde B. J., Pals G., Bravenboer N., Knaus P., Schoenmaker T., Botman E., Sanchez-Duffhues G., Pacifici M., Pignolo R. J., Shore E. M., van Egmond M., Van Oosterwyck H., Kaplan F. S., Hsiao E. C., Yu P. B., Bocciardi R., De Cunto C. L., Longo Ribeiro Delai P., de Vries T. J., Hilderbrandt S., Jaspers R. T., Keen R., Koolwijk P., Morhart R., Netelenbos J. C., Rustemeyer T., Scott C., Stockklausner C., ten Dijke P., Triffit J., Ventura F., Ravazzolo R., Micha D., Eekhoff E. M. W.
المساهمون: de Ruiter, R. D., Smilde, B. J., Pals, G., Bravenboer, N., Knaus, P., Schoenmaker, T., Botman, E., Sanchez-Duffhues, G., Pacifici, M., Pignolo, R. J., Shore, E. M., van Egmond, M., Van Oosterwyck, H., Kaplan, F. S., Hsiao, E. C., Yu, P. B., Bocciardi, R., De Cunto, C. L., Longo Ribeiro Delai, P., de Vries, T. J., Hilderbrandt, S., Jaspers, R. T., Keen, R., Koolwijk, P., Morhart, R., Netelenbos, J. C., Rustemeyer, T., Scott, C., Stockklausner, C., ten Dijke, P., Triffit, J., Ventura, F., Ravazzolo, R., Micha, D., Eekhoff, E. M. W.
مصطلحات موضوعية: angiogenesi, disease model, fibrodysplasia ossificans progessiva (FOP), inflammation, therapy, trials
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/34858325; info:eu-repo/semantics/altIdentifier/wos/WOS:000725178000001; volume:12; firstpage:732728-1; lastpage:732728-12; numberofpages:12; journal:FRONTIERS IN ENDOCRINOLOGY; https://hdl.handle.net/11567/1067573; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120700334
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5Conference
المؤلفون: Shibamura, H., Buxbaum, S., Olson, J. M., Tromp, G., Skunca, M., Arthur, C., Berguer, R., Cole, C. W., Limet, Raymond, MacKean, G., Pals, G., Sakalihasan, Natzi, van Vlijmen-van Keulen, C., Verloes, Alain, Kuivaniemi, H.
المصدر: Circulation, 106 (19, Suppl. S), 168 (2002); 75th Scientific Session of the American Heart Association, November 17-20, 2002
مصطلحات موضوعية: Human health sciences, Hematology, Cardiovascular & respiratory systems, Sciences de la santé humaine, Hématologie, Systèmes cardiovasculaire & respiratoire
Relation: urn:issn:0009-7322; urn:issn:1524-4539
URL الوصول: https://orbi.uliege.be/handle/2268/130083
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6Academic Journal
المؤلفون: Nepal, A.K., van Essen, H.W., van der Veen, A.J., van Wieringen, W.N., Stavenuiter, A.W.D., Cayami, F.K., Pals, G., Micha, D., Vanderschueren, D., Lips, P., Bravenboer, N.
المصدر: Nepal , A K , van Essen , H W , van der Veen , A J , van Wieringen , W N , Stavenuiter , A W D , Cayami , F K , Pals , G , Micha , D , Vanderschueren , D , Lips , P & Bravenboer , N 2021 , ' Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats ' , Journal of Orthopaedic Research , vol. 39 , no. 1 , pp. 42-52 . https://doi.org/10.1002/jor.24775
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7Academic Journal
المؤلفون: Eekhoff, EMW, Micha, D, Forouzanfar, T, de Vries, Teun J., Netelenbos, J.C., Klein-Nulend, Jenneke, van Loon, JJWA, Lubbers, WD, Schwarte, LA, Schober, PR, Raijmakers, PGHM, Teunissen, Berend Popko, de Graaf, P, Lammertsma, AA, Yaqub, MM, Botman, E, Treurniet, S, Smilde, BJ, Bökenkamp, A, Boonstra, A, Kamp, O, Nieuwenhuijzen, JA, Visser, Marieke C., Baayen, JC, Dahele, MR, Eeckhout, Guus M, Goderie, TPM, Smits, C, Gilijamse, M, Karagozoglu, KH, van der Valk, P, Dickhoff, C, Moll, AC, Verbraak, FD, Curro-Tafili, Katie, Ghyczy, E, Rustemeyer, T, Saeed, Peeroz, Maugeri, A, Pals, G, Ridwan-Pramana, A, Pekel, E, Schoenmaker, Ton, Lems, WF, Winters, HAH, Botman, M, Giannakópoulos, GF, Koolwijk, P, Janssen, Jeroen M. W. M., Kloen, P, Bravenboer, N, Smit, JM, Helder, MN
المصدر: Eekhoff , EMW , Micha , D , Forouzanfar , T , de Vries , T J , Netelenbos , J C , Klein-Nulend , J , van Loon , JJWA , Lubbers , WD , Schwarte , LA , Schober , PR , Raijmakers , PGHM , Teunissen , B P , de Graaf , P , Lammertsma , AA , Yaqub , MM , Botman , E , Treurniet , S , Smilde , BJ , Bökenkamp , A , Boonstra , A , Kamp , O , Nieuwenhuijzen , JA , Visser , M C , ....
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8Academic Journal
المؤلفون: Botman, E., Teunissen, B.P., Raijmakers, P., de Graaf, P., Yaqub, M., Treurniet, S., Schoenmaker, T., Bravenboer, N., Micha, D., Pals, G., Bökenkamp, A., Netelenbos, J.C., Lammertsma, A.A., Eekhoff, E.M.W.
المصدر: Botman , E , Teunissen , B P , Raijmakers , P , de Graaf , P , Yaqub , M , Treurniet , S , Schoenmaker , T , Bravenboer , N , Micha , D , Pals , G , Bökenkamp , A , Netelenbos , J C , Lammertsma , A A & Eekhoff , E M W 2020 , ' Diagnostic value of magnetic resonance imaging in fibrodysplasia ossificans progressiva ' , JBMR Plus , vol. 4 , no. 6 , e10363 , pp. e10363 . https://doi.org/10.1002/jbm4.10363
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/reduced_inequalities, name=SDG 10 - Reduced Inequalities
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9Electronic Resource
المؤلفون: Lauffer, P., Pals, G., Zwinderman, A.H., Postema, F.A.M., Baars, M.J., Dulfer, E., Hilhorst-Hofstee, Y., Houweling, A.C., Kempers, M., Krapels, I.P.C., Laar, I.M.B.H. van de, Loeys, B.L., Spaans, A.M.J., Warnink-Kavelaars, J., Waard, V. de, Wit, J.M., Menke, L.A.
المصدر: American Journal of Medical Genetics. Part A; 479; 489; 1552-4825; 2; 191; ~American Journal of Medical Genetics. Part A~479~489~~~1552-4825~2~191~~
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10Academic JournalThe first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
المؤلفون: Cayami, FK, Maugeri, A, Treurniet, S, Setijowati, E.D., Teunissen, Berend Popko, Eekhoff, EMW, Pals, G, Faradz, S.M., Micha, D
المصدر: Cayami , FK , Maugeri , A , Treurniet , S , Setijowati , E D , Teunissen , B P , Eekhoff , EMW , Pals , G , Faradz , S M & Micha , D 2019 , ' The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1 ' , Molecular Genetics and Genomic Medicine , vol. 7 , no. 8 , e823 . https://doi.org/10.1002/mgg3.823
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11
المؤلفون: van Zeeburg, HJT, Snijders, PJF, Pals, G, Hermsen, MAA, Rooimans, MA, Bagby, G, Soulier, J, Gluckman, E, Wennerberg, Johan, Leemans, CR, Joenje, H, Brakenhoff, RH
المصدر: Cancer Research. 65(4):1271-1276
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Oto-rhino-laryngologi, Medical and Health Sciences, Clinical Medicine, Otorhinolaryngology
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12
المؤلفون: Zhong, W., Pathak, Janak L., Liang, Yueting, Zhytnik, L., Pals, G., Eekhoff, E.M.W., Bravenboer, N., Micha, D.
المصدر: Zhong, W, Pathak, J L, Liang, Y, Zhytnik, L, Pals, G, Eekhoff, E M W, Bravenboer, N & Micha, D 2023, ' The intricate mechanism of PLS3 in bone homeostasis and disease ', Frontiers in Endocrinology .
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13Academic Journal
المؤلفون: Eekhoff, E.M.W., Netelenbos, J.C., de Graaf, P., Hoebink, M., Bravenboer, N., Micha, D., Pals, G., de Vries, T.J., Lammertsma, A.A., Raijmakers, P.G.H.M., van Es, R.J.J.
المصدر: Eekhoff , E M W , Netelenbos , J C , de Graaf , P , Hoebink , M , Bravenboer , N , Micha , D , Pals , G , de Vries , T J , Lammertsma , A A , Raijmakers , P G H M & van Es , R J J 2018 , ' Flare-up after maxillofacial surgery in a patient with fibrodysplasia ossificans progressiva : An [18F]-NaF PET/CT study and a systematic review ' , JBMR Plus , vol. 2 , no. 1 , pp. 55-58 . https://doi.org/10.1002/jbm4.10008
وصف الملف: application/pdf
Relation: https://dare.uva.nl/personal/pure/en/publications/flareup-after-maxillofacial-surgery-in-a-patient-with-fibrodysplasia-ossicans-progressiva(f8d1ab1a-57e0-47aa-b819-e73cf89e6292).html
الاتاحة: https://dare.uva.nl/personal/pure/en/publications/flareup-after-maxillofacial-surgery-in-a-patient-with-fibrodysplasia-ossicans-progressiva(f8d1ab1a-57e0-47aa-b819-e73cf89e6292).html
https://doi.org/10.1002/jbm4.10008
https://hdl.handle.net/11245.1/f8d1ab1a-57e0-47aa-b819-e73cf89e6292
https://pure.uva.nl/ws/files/32346732/Eekhoff_et_al_2018_JBMR_Plus.pdf
https://pure.uva.nl/ws/files/35224799/Eekhoff_et_al_2018_JBMR_Plus_suppl.pdf -
14Academic Journal
المؤلفون: Elsacker, E. van, Vink, A.S., Menke, L.A., Pals, G., Bokenkamp, R., Backx, A.C.P.M., Hilhorst-Hofstee, Y., Blom, N.A., Hulst, A.E. van der
المصدر: Open Heart
مصطلحات موضوعية: Marfan Syndrome, Aortic Aneurysm, Aneurysm, Dissecting
وصف الملف: application/pdf
Relation: lumc-id: 176569483; https://hdl.handle.net/1887/3575983
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15Academic Journal
المؤلفون: den Hartog, A. W., Franken, R., van den Berg, M. P., Zwinderman, A. H., Timmermans, J., Scholte, A. J., de Waard, V., Spijkerboer, A. M., Pals, G., Mulder, B. J. M., Groenink, M.
المصدر: den Hartog , A W , Franken , R , van den Berg , M P , Zwinderman , A H , Timmermans , J , Scholte , A J , de Waard , V , Spijkerboer , A M , Pals , G , Mulder , B J M & Groenink , M 2016 , ' The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations ' , Netherlands Heart Journal , vol. 24 , no. 11 , pp. 675-681 . https://doi.org/10.1007/s12471-016-0905-8
مصطلحات موضوعية: Marfan syndrome, Ventricular function, Ventricular volumes, Losartan, Cardiac magnetic resonance imaging, FBN1 mutation classes
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16Academic Journal
المؤلفون: Franken, R., Groenink, M., de Waard, V., Feenstra, Helena M.A., Scholte, A.J., van den Berg, M.P., Pals, G., Zwinderman, Aeilko H., Timmermans, Janneke, Mulder, Barbara J.M.
المصدر: Franken , R , Groenink , M , de Waard , V , Feenstra , H M A , Scholte , A J , van den Berg , M P , Pals , G , Zwinderman , A H , Timmermans , J & Mulder , B J M 2016 , ' Genotype impacts survival in Marfan syndrome ' , European Heart Journal , vol. 37 , no. 43 , pp. 3285–3290 . https://doi.org/10.1093/eurheartj/ehv739
مصطلحات موضوعية: Marfan syndrome, Aortic aneurysm, Aortic dissection, Survival, FBN1 mutation, CLINICAL PHENOTYPES, FBN1 GENE, MUTATION, PATHOGENESIS, EXPRESSION, LOSARTAN, DISEASE
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17Academic Journal
المؤلفون: van Dijk, F. S., Byers, P. H., Dalgleish, Raymond Walter Miller, Malfait, F., Maugeri, A., Rohrbach, M., Symoens, S., Sistermans, E. A., Pals, G.
مصطلحات موضوعية: Collagen Type I, Fibroblasts, Genetic Counseling, Genetic Diseases, Inborn, Genetic Testing, Heterozygote, Humans, Inheritance Patterns, Mutation, Osteogenesis Imperfecta, Preimplantation Diagnosis, Prenatal Diagnosis
Relation: http://www.ncbi.nlm.nih.gov/pubmed/21829228; European Journal of Human Genetics, 2012, 20 (1), pp. 11-19; http://www.nature.com/ejhg/journal/v20/n1/full/ejhg2011141a.html; http://hdl.handle.net/2381/37205; ejhg2011141
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18Academic Journal
المؤلفون: Setyawati, A. (Amallia), Maharani, N. (Nani), Faradz, S. (Sultana), Pals, G. (Gerard), Rifqi, S. (Sodiqur), Sungkar, M. (Muhammad)
المصدر: Medica Hospitalia
مصطلحات موضوعية: Indonesia
وصف الملف: application/pdf
Relation: https://www.neliti.com/publications/352958/fbn1-mutation-screening-in-a-marfan-syndrome-patient
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19Academic Journal
المؤلفون: Verheij, Joke B.G.M., Wildhagen, Mark F., Hofstra, R.M.W., Pals, G., Habbema, J. Dik F., Kate, Leo P. ten
المصدر: Community Genetics, 1999 Jan 01. 2(2/3), 74-81.
URL الوصول: https://www.jstor.org/stable/26664449
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20Academic Journal
المؤلفون: Ruiter, R.D. de, Smilde, B.J., Pals, G., Bravenboer, N., Knaus, P., Schoenmaker, T., Botman, E., Sanchez-Duffhues, G., Pacifici, M., Pignolo, R.J., Shore, E.M., Egmond, M. van, Oosterwyck, H. van, Kaplan, F.S., Hsiao, E.C., Yu, P.B., Bocciardi, R., Cunto, C.L. de, Delai, P.L.R., Vries, T.J. de, Hilderbrandt, S., Jaspers, R.T., Keen, R., Koolwijk, P., Morhart, R., Netelenbos, J.C., Rustemeyer, T., Scott, C., Stockklausner, C., Dijke, P. ten, Triffit, J., Ventura, F., Ravazzolo, R., Micha, D., Eekhoff, E.M.W.
المصدر: Frontiers in Endocrinology
مصطلحات موضوعية: fibrodysplasia ossificans progessiva (FOP), trials, therapy, disease models, inflammation, angiogenesis
وصف الملف: application/pdf
Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.732728/pdf; lumc-id: 122499508; https://hdl.handle.net/1887/3263773
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