المؤلفون: Sörmann, J, Schewe, M, Proks, P, Jouen-Tachoire, T, Rao, S, Riel, EB, Agre, KE, Begtrup, A, Dean, J, Descartes, M, Fischer, J, Gardham, A, Lahner, C, Mark, PR, Muppidi, S, Pichurin, PN, Porrmann, J, Schallner, J, Smith, K, Straub, V, Vasudevan, P, Willaert, R, Carpenter, EP, Rödström, KEJ, Hahn, MG, Müller, T, Baukrowitz, T, Hurles, ME, Wright, CF, Tucker, SJ

العلاقة: https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17Test; https://doi.org/10.1038/s41588-022-01185-xTest

الإتاحة: https://doi.org/10.1038/s41588-022-01185-xTest
https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17Test

المؤلفون: Yan, KZ, Rousseau, J, Machol, K, Cross, LA, Agre, KE, Gibson, CF, Goverde, Anne, Engleman, KL, Verdin, H, De Baere, E, Potocki, L, Zhou, DH, Cadieux-Dion, M, Bellus, GA, Wagner, MD, Hale, RJ, Esber, N, Riley, AF, Solomon, BD, Cho, M T, McWalter, K, Eyal, R, Hainlen, MK, Mendelsohn, BA, Porter, HM, Lanpher, BC, Lewis, AM, Savatt, J, Thiffault, I, Callewaert, B, Campeau, PM, Yang, XJ

المصدر: Yan , KZ , Rousseau , J , Machol , K , Cross , LA , Agre , KE , Gibson , CF , Goverde , A , Engleman , KL , Verdin , H , De Baere , E , Potocki , L , Zhou , DH , Cadieux-Dion , M , Bellus , GA , Wagner , MD , Hale , RJ , Esber , N , Riley , AF , Solomon , BD , Cho , M T , McWalter , K , Eyal , R , Hainlen , MK , Mendelsohn , BA , Porter ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1126/sciadv.aax0021Test
https://pure.eur.nl/en/publications/9136f873-ae1d-41e4-866f-1157ef2ac602Test
https://pure.eur.nl/ws/files/48288663/Repub_124458_O-A.pdfTest

المؤلفون: Yan, KZ, Rousseau, J, Machol, K, Cross, LA, Agre, KE, Gibson, CF, Goverde, Anne, Engleman, KL, Verdin, H, De Baere, E, Potocki, L, Zhou, DH, Cadieux-Dion, M, Bellus, GA, Wagner, MD, Hale, RJ, Esber, N, Riley, AF, Solomon, BD, Cho, M T, McWalter, K, Eyal, R, Hainlen, MK, Mendelsohn, BA, Porter, HM, Lanpher, BC, Lewis, AM, Savatt, J, Thiffault, I, Callewaert, B, Campeau, PM, Yang, XJ

المصدر: Yan , KZ , Rousseau , J , Machol , K , Cross , LA , Agre , KE , Gibson , CF , Goverde , A , Engleman , KL , Verdin , H , De Baere , E , Potocki , L , Zhou , DH , Cadieux-Dion , M , Bellus , GA , Wagner , MD , Hale , RJ , Esber , N , Riley , AF , Solomon , BD , Cho , M T , McWalter , K , Eyal , R , Hainlen , MK , Mendelsohn , BA , Porter ....

مصطلحات موضوعية: /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

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/9136f873-ae1d-41e4-866f-1157ef2ac602Test

الإتاحة: https://doi.org/10.1126/sciadv.aax0021Test
https://pure.eur.nl/en/publications/9136f873-ae1d-41e4-866f-1157ef2ac602Test
https://pure.eur.nl/ws/files/48288663/Repub_124458_O-A.pdfTest

المؤلفون: Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, Hayeems, RZ, Rodan, LH, Schwartz, MA, Picker, J, Lynch, SA, Gupta, A, Rasmussen, KJ, Schimmenti, LA, Klee, EW, Niu, Z, Agre, KE, Chilton, I, Chung, WK, Revah-Politi, A, Au, PYB, Griffith, C, Racobaldo, M, Raas-Rothschild, A, Ben Zeev, B, Barel, O, Moutton, S, Morice-Picard, F, Carmignac, V, Cornaton, J, Marle, N, Devinsky, O, Stimach, C, Wechsler, SB, Hainline, BE, Sapp, K, Willems, M, Bruel, A, Dias, K-R, Evans, C-A, Roscioli, T, Sachdev, R, Temple, SEL, Zhu, Y, Baker, JJ, Scheffer, IE, Gardiner, FJ, Schneider, AL, Muir, AM, Mefford, HC, Crunk, A, Heise, EM, Millan, F, Monaghan, KG, Person, R, Rhodes, L, Richards, S, Wentzensen, IM, Cogne, B, Isidor, B, Nizon, M, Vincent, M, Besnard, T, Piton, A, Marcelis, C, Kato, K, Koyama, N, Ogi, T, Goh, ES-Y, Richmond, C, Amor, DJ, Boyce, JO, Morgan, AT, Hildebrand, MS, Kaspi, A, Bahlo, M, Fridriksdottir, R, Katrinardottir, H, Sulem, P, Stefansson, K, Bjornsson, HT, Mandelstam, S, Morleo, M, Mariani, M, Scala, M, Accogli, A, Torella, A, Capra, V, Wallis, M, Jansen, S, Waisfisz, Q, de Haan, H, Sadedin, S, Lim, SC, White, SM, Ascher, DB, Schenck, A, Lockhart, PJ, Christodoulou, J, Tan, TY

العلاقة: pii: S0002-9297(22)00098-2; Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W. ,. Tan, T. Y. (2022). Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 109 (4), pp.601-617. https://doi.org/10.1016/j.ajhg.2022.03.002Test.; http://hdl.handle.net/11343/316396Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.002Test
http://hdl.handle.net/11343/316396Test

المؤلفون: Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, DA, Lalani, SR, Rosenfeld, JA, Azamian, MS, Xia, F, Dutra-Clarke, M, Martinez-Agosto, JA, Lee, H, Nelson, SF, Grody, WW, Deignan, JL, Kang, SH, Arboleda, VA, Senaratne, TN, Dorrani, N, Dutra-Clarke, MS, Kianmahd, J, Hinkamp, FL, Neustadt, AM, Fogel, BL, Quintero-Rivera, F, Noh, GJ, Lippa, N, Alkelai, A, Aggarwal, V, Agre, KE, Gavrilova, R, Mirzaa, GM, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, Marjon, de Man, SA, Ekici, AB, Gregor, A, De Graaf - van de Laar, Ingrid, Zweier, C

المصدر: Fliedner , A , Kirchner , P , Wiesener , A , van de Beek , I , Waisfisz , Q , van Haelst , M , Scott , DA , Lalani , SR , Rosenfeld , JA , Azamian , MS , Xia , F , Dutra-Clarke , M , Martinez-Agosto , JA , Lee , H , Nelson , SF , Grody , WW , Deignan , JL , Kang , SH , Arboleda , VA , Senaratne , TN , Dorrani , N , Dutra-Clarke , MS , Kianmahd , J , Hinkamp , FL , ....

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.019Test
https://pure.eur.nl/en/publications/787e23fa-ddf3-479a-8824-9b5d5332811dTest
http://hdl.handle.net/1765/129632Test

المؤلفون: Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, DA, Lalani, SR, Rosenfeld, JA, Azamian, MS, Xia, F, Dutra-Clarke, M, Martinez-Agosto, JA, Lee, H, Nelson, SF, Grody, WW, Deignan, JL, Kang, SH, Arboleda, VA, Senaratne, TN, Dorrani, N, Dutra-Clarke, MS, Kianmahd, J, Hinkamp, FL, Neustadt, AM, Fogel, BL, Quintero-Rivera, F, Noh, GJ, Lippa, N, Alkelai, A, Aggarwal, V, Agre, KE, Gavrilova, R, Mirzaa, GM, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, Marjon, de Man, SA, Ekici, AB, Gregor, A, De Graaf - van de Laar, Ingrid, Zweier, C

المصدر: Fliedner , A , Kirchner , P , Wiesener , A , van de Beek , I , Waisfisz , Q , van Haelst , M , Scott , DA , Lalani , SR , Rosenfeld , JA , Azamian , MS , Xia , F , Dutra-Clarke , M , Martinez-Agosto , JA , Lee , H , Nelson , SF , Grody , WW , Deignan , JL , Kang , SH , Arboleda , VA , Senaratne , TN , Dorrani , N , Dutra-Clarke , MS , Kianmahd , J , Hinkamp , FL , ....

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

العلاقة: https://pure.eur.nl/en/publications/787e23fa-ddf3-479a-8824-9b5d5332811dTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.019Test
https://pure.eur.nl/en/publications/787e23fa-ddf3-479a-8824-9b5d5332811dTest
http://hdl.handle.net/1765/129632Test