المؤلفون: Reutter, H, Draaken, M, Pennimpede, T, Wittler, L, Brockschmidt, FF, Ebert, AK, Bartels, E, Rosch, W, Boemers, TM, Hirsch, K, Schmiedeke, E, Meesters, C, Becker, T, Stein, R, Utsch, B, Mangold, E, Nordenskjold, A, Barker, G, Kockum, CC, Zwink, N, Holmdahl, G, Lackgren, G, Jenetzky, E, Feitz, WFJ, Marcelis, C, Wijers, CHW, Van Rooij, IALM, Gearhart, JP, Herrmann, BG, Ludwig, M, Boyadjiev, SA, Nothen, MM, Mattheisen, M

المصدر: Human molecular genetics. 23(20):5536-5544

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129922235Test

المؤلفون: Justice, CM, Musolf, AM, Cuellar, A, Lattanzi, W, Simeonov, E, Kaneva, R, Paschall, J, Cunningham, M, Wilkie, AOM, Wilson, AF, Romitti, PA, Boyadjiev, SA

العلاقة: https://ora.ox.ac.uk/objects/uuid:7347fe4d-d6cb-498f-aec4-06188c51215bTest; https://doi.org/10.3390/genes13050816Test

الإتاحة: https://doi.org/10.3390/genes13050816Test
https://ora.ox.ac.uk/objects/uuid:7347fe4d-d6cb-498f-aec4-06188c51215bTest

المؤلفون: Zhang, R, Knapp, M, Suzuki, K, Kajioka, D, Schmidt, JM, Winkler, J, Yilmaz, O, Pleschka, M, Cao, J, Kockum, CC, Barker, G, Holmdahl, G, Beaman, G, Keene, D, Woolf, AS, Cervellione, RM, Cheng, W, Wilkins, S, Gearhart, JP, Sirchia, F, Di Grazia, M, Ebert, AK, Rosch, W, Ellinger, J, Jenetzky, E, Zwink, N, Feitz, WF, Marcelis, C, Schumacher, J, Martinon-Torres, F, Hibberd, ML, Khor, CC, Heilmann-Heimbach, S, Barth, S, Boyadjiev, SA, Brusco, A, Ludwig, M, Newman, W, Nordenskjold, A, Yamada, G, Odermatt, B, Reutter, H

المصدر: Scientific reports. 7:42170

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135109617Test

المؤلفون: Calpena, E, Cuellar, A, Bala, K, Swagemakers, Sigrid, Koelling, N, McGowan, SJ, Phipps, JM, Balasubramanian, M, Cunningham, ML, Douzgou, S, Lattanzi, W, Morton, JEV, Shears, D, Weber, A, Wilson, LC, Lord, H, Lester, T, Johnson, D, Wall, SA, Twigg, SRF, Mathijssen, Irene, Boardman-Pretty, F, Boyadjiev, SA, Wilkie, AOM

المصدر: Calpena , E , Cuellar , A , Bala , K , Swagemakers , S , Koelling , N , McGowan , SJ , Phipps , JM , Balasubramanian , M , Cunningham , ML , Douzgou , S , Lattanzi , W , Morton , JEV , Shears , D , Weber , A , Wilson , LC , Lord , H , Lester , T , Johnson , D , Wall , SA , Twigg , SRF , Mathijssen , I , Boardman-Pretty , F , Boyadjiev , SA & Wilkie , AOM 2020 , ' SMAD6 ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41436-020-0817-2Test
https://pure.eur.nl/en/publications/c9e25619-972b-4e58-b291-513ee538cba4Test
https://pure.eur.nl/ws/files/48364186/Repub_127739_O-A.pdfTest
http://hdl.handle.net/1765/127739Test

المؤلفون: Justice, CM, Cuellar, A, Bala, K, Sabourin, JA, Cunningham, ML, Crawford, K, Phipps, JM, Zhou, Y, Cilliers, D, Byren, JC, Johnson, D, Wall, SA, Morton, JEV, Noons, P, Sweeney, E, Weber, A, Rees, KEM, Wilson, LC, Simeonov, E, Kaneva, R, Yaneva, N, Georgiev, K, Bussarsky, A, Senders, C, Zwienenberg, M, Boggan, J, Roscioli, T, Tamburrini, G, Barba, M, Conway, K, Sheffield, VC, Brody, L, Mills, JL, Kay, D, Sicko, RJ, Langlois, PH, Tittle, RK, Botto, LD, Jenkins, MM, LaSalle, JM, Lattanzi, W, Wilkie, AOM, Wilson, AF, Romitti, PA, Boyadjiev, SA, Study, National Birth Defects Prevention

العلاقة: https://ora.ox.ac.uk/objects/uuid:c7cf862e-d152-4f72-8653-acb431feece5Test; https://doi.org/10.1007/s00439-020-02157-zTest

الإتاحة: https://doi.org/10.1007/s00439-020-02157-zTest
https://ora.ox.ac.uk/objects/uuid:c7cf862e-d152-4f72-8653-acb431feece5Test

المؤلفون: Schiffmann, R, Goker-Alpan, O, Holida, M, Giraldo, P, Barisoni, L, Colvin, RB, Jennette, CJ, Maegawa, G, Boyadjiev, SA, Gonzalez, D, Nicholls, K, Tuffaha, A, Atta, MG, Rup, B, Charney, MR, Paz, A, Szlaifer, M, Alon, S, Brill-Almon, E, Chertkoff, R, Hughes, D

المصدر: Journal of Inherited Metabolic Disease , 42 (3) pp. 534-544. (2019)

مصطلحات موضوعية: antidrug antibodies, enzyme replacement therapy, Fabry disease, immunogenicity, pegunigalsidase alfa, pharmacokinetics

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10072975/1/Schiffmann_et_al-2019-Journal_of_Inherited_Metabolic_Disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10072975Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10072975/1/Schiffmann_et_al-2019-Journal_of_Inherited_Metabolic_Disease.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10072975Test/

المؤلفون: Draaken, M, Baudisch, F, Timmermann, B, Kuhl, H, Kerick, M, Proske, J, Wittler, L, Pennimpede, T, Ebert, AK, Rosch, W, Stein, R, Bartels, E, von Lowtzow, C, Boemers, TM, Herms, S, Gearhart, JP, Lakshmanan, Y, Kockum, CC, Holmdahl, G, Lackgren, G, Nordenskjold, A, Boyadjiev, SA, Herrmann, BG, Nothen, MM, Ludwig, M, Reutter, H

المصدر: Birth defects research. Part A, Clinical and molecular teratology. 100(6):512-517

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129246667Test

المؤلفون: Boyadjiev, SA, Chowdry, AB, Shapiro, RE, Paznekas, WA, Wandstrat, AE, Choi, JW, Kasch, L, Zhang, G, Wollnik, B, Burgess, CE, Schalling, M, Lovett, M, Jabs, EW

المصدر: Cytogenetic and genome research. 98(1):29-37

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1941015Test

المؤلفون: Kim, S, Liu, JL, Roscioli, T, Buckley, M, Yagnik, G, Boyadjiev, SA, Kim, J

المصدر: urn:ISSN:0014-5793 ; urn:ISSN:1873-3468 ; FEBS Letters, 586, 10, 1516-1521

مصطلحات موضوعية: 1 Underpinning research, 1.1 Normal biological development and functioning, Amino Acid Sequence, Animals, Base Sequence, Cell Line, DNA Primers, Humans, Immunoglobulins, Leucine, Molecular Sequence Data, Phospholipases, Protein Kinases, Receptor, Fibroblast Growth Factor, Type 1, Repetitive Sequences, Amino Acid, Signal Transduction, anzsrc-for: 111403 Paediatrics, anzsrc-for: 060408 Genomics, anzsrc-for: 0304 Medicinal and Biomolecular Chemistry, anzsrc-for: 0601 Biochemistry and Cell Biology, anzsrc-for: 0603 Evolutionary Biology

العلاقة: http://hdl.handle.net/1959.4/unsworks_34576Test; https://doi.org/10.1016/j.febslet.2012.04.010Test

الإتاحة: https://doi.org/10.1016/j.febslet.2012.04.010Test
http://hdl.handle.net/1959.4/unsworks_34576Test

المؤلفون: Vissers, LELM, Cox, TC, Maga, AM, Short, KM, Wiradjaja, F, Janssen, IM, Jehee, F, Bertola, D, Liu, J, Yagnik, G, Sekiguchi, K, Kiyozumi, D, van Bokhoven, H, Marcelis, C, Cunningham, ML, Anderson, PJ, Boyadjiev, SA, Passos-Bueno, MR, Veltman, JA, Smyth, I, Buckley, MF, Roscioli, T

المساهمون: van Heyningen, Veronica

المصدر: urn:ISSN:1553-7390 ; urn:ISSN:1553-7404 ; PLoS Genetics, 7, 9, e1002278

مصطلحات موضوعية: Human Genome, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, 2 Aetiology, Animals, Chromosomes, Human, Pair 9, Cranial Sutures, Craniosynostoses, Cytokines, DNA Copy Number Variations, Extracellular Matrix Proteins, Heterozygote, Humans, Mice, Inbred C57BL, Mutation, Phenotype, Receptors, Interleukin, Sequence Deletion, anzsrc-for: 0604 Genetics

العلاقة: http://hdl.handle.net/1959.4/unsworks_34561Test; https://doi.org/10.1371/journal.pgen.1002278Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1002278Test
http://hdl.handle.net/1959.4/unsworks_34561Test