المؤلفون: Walker, R, Mahmood, K, Como, J, Clendenning, M, Joo, JE, Georgeson, P, Joseland, S, Preston, SG, Pope, BJ, Chan, JM, Austin, R, Bojadzieva, J, Campbell, A, Edwards, E, Gleeson, M, Goodwin, A, Harris, MT, Ip, E, Kirk, J, Mansour, J, Fan, HM, Nichols, C, Pachter, N, Ragunathan, A, Spigelman, A, Susman, R, Christie, M, Jenkins, MA, Pai, RK, Rosty, C, Macrae, FA, Winship, IM, Buchanan, DD

Relation: NHMRC/1125269; NHMRC/1195099; NHMRC/1194896; pii: cancers15204925; Walker, R., Mahmood, K., Como, J., Clendenning, M., Joo, J. E., Georgeson, P., Joseland, S., Preston, S. G., Pope, B. J., Chan, J. M., Austin, R., Bojadzieva, J., Campbell, A., Edwards, E., Gleeson, M., Goodwin, A., Harris, M. T., Ip, E., Kirk, J. ,. Buchanan, D. D. (2023). DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands. CANCERS, 15 (20), https://doi.org/10.3390/cancers15204925.; http://hdl.handle.net/11343/339231

الاتاحة: http://hdl.handle.net/11343/339231

المؤلفون: Ramachandra, A., Thomas, E. H. X., Vincent, A. J., Hickey, M., Warren, N., Kulkarni, J., Forrest, L. E., Bojadzieva, J., Campbell, A., Gurvich, C.

المساهمون: Women's Health Research Translation Network, NHMRC funded Centre for Research Excellence in Women’s Health in Reproductive Life, Australia Health Research Alliance

المصدر: Climacteric ; volume 26, issue 6, page 625-631 ; ISSN 1369-7137 1473-0804

الاتاحة: http://dx.doi.org/10.1080/13697137.2023.2256659
https://www.tandfonline.com/doi/pdf/10.1080/13697137.2023.2256659

المؤلفون: Bournazos, A.M., Riley, L.G., Bommireddipalli, S., Ades, L., Akesson, L.S., Al-Shinnag, M., Alexander, S.I., Archibald, A.D., Balasubramaniam, S., Berman, Y., Beshay, V., Boggs, K., Bojadzieva, J., Brown, N.J., Bryen, S.J., Buckley, M.F., Chong, B., Davis, M.R., Dawes, R., Delatycki, M.

المصدر: http://dx.doi.org/10.1016/j.gim.2021.09.001.

مصطلحات موضوعية: Genetic diagnosis, Noncoding variant, Pre-mRNA splicing, Putative splice variant, Variant classification, Humans, RNA, Sequence Analysis, RNA Splicing, Mutation, Adolescent, Adult, Child, Preschool, Whole Exome Sequencing

Relation: http://purl.org/au-research/grants/nhmrc/1136197; http://purl.org/au-research/grants/nhmrc/1136800; Genetics in Medicine, 2022; 24(1):130-145; https://hdl.handle.net/2440/136090

الاتاحة: https://hdl.handle.net/2440/136090
https://doi.org/10.1016/j.gim.2021.09.001

المؤلفون: Chalinor, H., Bodek, S., Bojadzieva, J., Farouque, O., Hare, D., Johns, J., Kearney, L., Lim, H., Lin, T., Mirzaee, S., Ramchand, J., Salmon, L., Stutterd, C., Teh, A., Valente, G., Wallis, M.

المصدر: Heart, Lung and Circulation ; volume 31, page S5-S6 ; ISSN 1443-9506

الاتاحة: http://dx.doi.org/10.1016/j.hlc.2022.04.012
https://api.elsevier.com/content/article/PII:S1443950622001536?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1443950622001536?httpAccept=text/plain

المؤلفون: Ballinger, ML, Best, A, Mai, PL, Khincha, PP, Loud, JT, Peters, JA, Achatz, MI, Chojniak, R, Balieiro da Costa, A, Santiago, KM, Garber, J, O'Neill, AF, Eeles, RA, Evans, DG, Bleiker, E, Sonke, GS, Ruijs, M, Loo, C, Schiffman, J, Naumer, A, Kohlmann, W, Strong, LC, Bojadzieva, J, Malkin, D, Rednam, SP, Stoffel, EM, Koeppe, E, Weitzel, JN, Slavin, TP, Nehoray, B, Robson, M, Walsh, M, Manelli, L, Villani, A, Thomas, DM, Savage, SA

المساهمون: Eeles, Rosalind, Marsden

مصطلحات موضوعية: Humans, Li-Fraumeni Syndrome, Diagnosis, Differential, Magnetic Resonance Imaging, Population Surveillance, Mutation, Adolescent, Adult, Middle Aged, Female, Male, Tumor Suppressor Protein p53, Whole Body Imaging, Practice Guidelines as Topic, Early Detection of Cancer, Young Adult

وصف الملف: Print; 1639; application/pdf

Relation: JAMA oncology, 2017, 3 (12), pp. 1634 - 1639; https://repository.icr.ac.uk/handle/internal/909

الاتاحة: https://repository.icr.ac.uk/handle/internal/909
https://doi.org/10.1001/jamaoncol.2017.1968