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1دورية أكاديمية
المؤلفون: Le, TL, Galmiche, L, Levy, J, Suwannarat, P, Hellebrekers, DM, Morarach, K, Boismoreau, F, Theunissen, TEJ, Lefebvre, M, Pelet, A, Martinovic, J, Gelot, A, Guimiot, F, Calleroz, A, Gitiaux, C, Hully, M, Goulet, O, Chardot, C, Drunat, S, Capri, Y, Bole-Feysot, C, Nitschke, P, Whalen, S, Mouthon, L, Babcock, HE, Hofstra, R, de Coo, IFM, Tabet, AC, Molina, TJ, Keren, B, Brooks, A, Smeets, HJM, Marklund, U, Gordon, CT, Lyonnet, S, Amiel, J, Bondurand, N
المصدر: The Journal of clinical investigation. 131(6)
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Kuil, L. E., Chauhan, R. K., de Graaf, B. M., Cheng, W. W., Kakiailatu, N. J.M., Lasabuda, R., Verhaeghe, C., Windster, J. D., Schriemer, D., Azmani, Z., Brooks, A. S., Edie, S., Reeves, R. H., Eggen, B. J.L., Shepherd, I. T., Burns, A. J., Hofstra, R. M.W., Melotte, V., Brosens, E., Alves, M. M.
المصدر: Kuil , L E , Chauhan , R K , de Graaf , B M , Cheng , W W , Kakiailatu , N J M , Lasabuda , R , Verhaeghe , C , Windster , J D , Schriemer , D , Azmani , Z , Brooks , A S , Edie , S , Reeves , R H , Eggen , B J L , Shepherd , I T , Burns , A J , Hofstra , R M W , Melotte , V , Brosens , E & Alves , M M 2024 , ' ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.bbadis.2023.166991Test
https://pure.eur.nl/en/publications/59d7ebda-6b21-4f1b-aa9d-b8957859e292Test
https://pure.eur.nl/ws/files/123983120/1-s2.0-S0925443923003575-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85180567077&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Le, T.L., Galmiche, L., Levy, J., Suwannarat, P., Hellebrekers, D.M., Morarach, K., Boismoreau, F., Theunissen, T.E.J., Lefebvre, M., Pelet, A., Martinovic, J., Gelot, A., Guimiot, F., Calleroz, A., Gitiaux, C., Hully, M., Goulet, O., Chardot, C., Drunat, S., Capri, Y., Bole-Feysot, C., Nitschke, P., Whalen, S., Mouthon, L., Babcock, H.E., Hofstra, R., de Coo, I.F.M., Tabet, A.C., Molina, T.J., Keren, B., Brooks, A., Smeets, H.J.M., Marklund, U., Gordon, C.T., Lyonnet, S., Amiel, J., Bondurand, N.
المصدر: Le , T L , Galmiche , L , Levy , J , Suwannarat , P , Hellebrekers , D M , Morarach , K , Boismoreau , F , Theunissen , T E J , Lefebvre , M , Pelet , A , Martinovic , J , Gelot , A , Guimiot , F , Calleroz , A , Gitiaux , C , Hully , M , Goulet , O , Chardot , C , Drunat , S , Capri , Y , Bole-Feysot , C , Nitschke , P , Whalen , S , Mouthon , L ....
مصطلحات موضوعية: CONGENITAL CONTRACTURAL SYNDROME, CHRONIC INTESTINAL PSEUDOOBSTRUCTION, SYNDROME TYPE-2 LCCS2, HIRSCHSPRUNG-DISEASE, SMOOTH-MUSCLE, PERIPHERAL NEUROPATHY, STRUCTURAL-ANALYSIS, RET PROTOONCOGENE, SOX10 MUTATIONS, TYROSINE KINASE
الإتاحة: https://doi.org/10.1172/jci146389Test
https://cris.maastrichtuniversity.nl/en/publications/51075cd7-7aa8-46db-af1f-08d7e7441e5eTest -
4دورية أكاديمية
المؤلفون: Le, T. L., Sribudiani, Y., Dong, X., Huber, C., Kois, C., Baujat, G., Gordon, C. T., Mayne, V., Galmiche, L., Serre, V., Goudin, N., Zarhrate, M., Bole-Feysot, C., Masson, C., Nitschke, P., Verheijen, F. W., Pais, L., Pelet, A., Sadedin, S., Pugh, J. A., Shur, N., White, S. M., Chehadeh, S. E., Christodoulou, J., Cormier-Daire, V., Hofstra, R. M. W., Lyonnet, S., Tan, T. Y., Attie-Bitach, T., Kerstjens-Frederikse, W. S., Amiel, J., Thomas, S.
المصدر: Le , T L , Sribudiani , Y , Dong , X , Huber , C , Kois , C , Baujat , G , Gordon , C T , Mayne , V , Galmiche , L , Serre , V , Goudin , N , Zarhrate , M , Bole-Feysot , C , Masson , C , Nitschke , P , Verheijen , F W , Pais , L , Pelet , A , Sadedin , S , Pugh , J A , Shur , N , White , S M , Chehadeh , S E , Christodoulou ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-020-00740-6Test
https://hdl.handle.net/11370/773a0f29-d29b-4988-be18-691723d3eb2bTest
https://research.rug.nl/en/publications/773a0f29-d29b-4988-be18-691723d3eb2bTest
https://pure.rug.nl/ws/files/159229401/Biallelic_loss_of_function_variations_in_SMO_encoding_the_key_transducer_of_the_Sonic_Hedgehog_pathway_cause_a_broad_phenotypic_spectrum_of_hedgehogopathies.pdfTest -
5دورية أكاديمية
المؤلفون: Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Celine, Kois, Chelsea, Baujat, Genevieve, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valerie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cecile, Nitschke, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valerie, Hofstra, R. M. W., Lyonnet, Stanislas, Tan, Tiong Yang, Attie-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie
المصدر: Le , T-L , Sribudiani , Y , Dong , X , Huber , C , Kois , C , Baujat , G , Gordon , C T , Mayne , V , Galmiche , L , Serre , V , Goudin , N , Zarhrate , M , Bole-Feysot , C , Masson , C , Nitschke , P , Verheijen , F W , Pais , L , Pelet , A , Sadedin , S , Pugh , J A , Shur , N , White , S M , El Chehadeh , S , Christodoulou , ....
مصطلحات موضوعية: INTRAFLAGELLAR TRANSPORT PROTEIN, NERVOUS-SYSTEM DEVELOPMENT, SONIC HEDGEHOG, HIRSCHSPRUNG DISEASE, PRIMARY CILIUM, HYPOTHALAMIC HAMARTOMA, MUTATIONS, GLI, ACTIVATION, CILIARY
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.04.010Test
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566Test
https://research.rug.nl/en/publications/f3efaa11-0ef7-4727-9a41-8f2f87fed566Test
https://pure.rug.nl/ws/files/153384937/1_s2.0_S0002929720301191_main_1_.pdfTest -
6دورية أكاديمية
المؤلفون: Abuli, A, Bujanda, L, Munoz, J, Buch, S, Schafmayer, C, Maiorana, MV, Veneroni, S, van Wezel, T, Liu, T, Westers, H, Esteban-Jurado, C, Ocana, T, Pique, JM, Andreu, M, Jover, R, Carracedo, A, Xicola, RM, Llor, X, Castells, A, Dunlop, M, Hofstra, R, Lindblom, A, Wijnen, J, Peterlongo, P, Hampe, J, Ruiz-Ponte, C, Castellvi-Bel, S
المصدر: PloS one. 9(4):e95022
مصطلحات موضوعية: Medicin och hälsovetenskap
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7دورية أكاديمية
المؤلفون: Goverde, A., Spaander, M. C. W., Nieboer, D., van den Ouweland, A. M. W., Dinjens, W. N. M., Dubbink, H. J., Tops, C. J., ten Broeke, S. W., Bruno, M. J., Hofstra, R. M. W., Steyerberg, E. W., Wagner, A.
المصدر: Familial Cancer ; volume 17, issue 3, page 361-370 ; ISSN 1389-9600 1573-7292
مصطلحات موضوعية: Cancer Research, Genetics (clinical), Oncology, Genetics
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8دورية أكاديمية
المؤلفون: Kohonen-Corish, MRJ, Macrae, F, Genuardi, M, Aretz, S, Bapat, B, Bernstein, IT, Burn, J, Cotton, RGH, den Dunnen, JT, Frebourg, T, Greenblatt, MS, Hofstra, R, Holinski-Feder, E, Lappalainen, I, Lindblom, A, Maglott, D, Moller, P, Morreau, H, Moslein, G, Sijmons, R, Spurdle, AB, Tavtigian, S, Tops, CMJ, Weber, TK, de Wind, N, Woods, MO
المصدر: Human mutation. 32(4):491-494
مصطلحات موضوعية: Medicin och hälsovetenskap
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9دورية أكاديمية
المؤلفون: Enciso-Mora, V, Broderick, P, Ma, Y, Jarrett, RF, Hjalgrim, H, Hemminki, K, van den Berg, A, Olver, B, Lloyd, A, Dobbins, SE, Lightfoot, T, van Leeuwen, FE, Forsti, A, Diepstra, A, Broeks, A, Vijayakrishnan, J, Shield, L, Lake, A, Montgomery, D, Roman, E, Engert, A, von Strandmann, EP, Reiners, KS, Nolte, IM, Smedby, KE, Adami, HO, Russell, NS, Glimelius, B, Hamilton-Dutoit, S, de Bruin, M, Ryder, LP, Molin, D, Sorensen, KM, Chang, ET, Taylor, M, Cooke, R, Hofstra, R, Westers, H, van Wezel, T, van Eijk, R, Ashworth, A, Rostgaard, K, Melbye, M, Swerdlow, AJ, Houlston, RS
المصدر: Nature genetics. 42(12):1126
مصطلحات موضوعية: Medicin och hälsovetenskap
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10دورية أكاديمية
المؤلفون: Torroglosa, A, Alves, M M, Fernández, R M, Antiñolo, G, Hofstra, R M, Borrego, S
مصطلحات موضوعية: Enteric nervous system, Epigenetics, Hirschsprung disease, Neural crest cells, DNA Methylation, Epigenesis, Genetic, Gastrointestinal Tract, Histones, Humans, Neural Crest, Organogenesis, RNA Processing, Post-Transcriptional, Signal Transduction
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