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1دورية أكاديمية
المؤلفون: Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E.P., van Oosterhoud, C. N., Claes, K. B.M., Paulussen, A. D.C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T.R.M., Broen, M. P.G., Spruijt, L., Jongmans, M. C.J., Lesnik Oberstein, S. A.J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W.J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.
المساهمون: CMM Groep Cuppen, MS Urologische Oncologie, Cancer, Genetica, Genetica Klinische Genetica, Child Health, Psychosociale zorg patientenzorg, Other research (not in main researchprogram)
مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Brandão, R. D., Mensaert, K., López-Perolio, I., Tserpelis, D., Xenakis, M., Lattimore, V., Walker, L. C., Kvist, A., Vega Gliemmo, Ana, Gutiérrez-Enríquez, S., Díez, O., de la Hoya, M., Spurdle, A. B., De Meyer, T., Blok, M. J.
المساهمون: K. ConFaB Investigators
مصطلحات موضوعية: Mutation, DNA-Binding Proteins, Cell Line, Humans, Electrophoresis, BRCA1 Protein, RNA Splicing, Hereditary Breast and Ovarian Cancer Syndrome, BRCA2 Protein, Genetic Predisposition to Disease, Colorectal Neoplasms, Sequence Analysis, mutación, proteínas de unión al ADN, línea celular, análisis de secuencias, electroforesis, empalme de ARN, humanos, proteína BRCA1, síndrome hereditario de cáncer de mama y ovario, predisposición genética a la enfermedad, neoplasias colorrectales, proteína BRCA2, FPGMX
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635756/pdf/IJC-145-401.pdfTest; http://hdl.handle.net/20.500.11940/15986Test; 33029
الإتاحة: https://doi.org/20.500.11940/15986Test
https://doi.org/10.1002/ijc.32114Test
https://hdl.handle.net/20.500.11940/15986Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635756/pdf/IJC-145-401.pdfTest -
3دورية أكاديمية
المؤلفون: Koster, R, Brandão, R D, Tserpelis, D, van Roozendaal, C E P, van Oosterhoud, C N, Claes, K B M, Paulussen, A D C, Sinnema, M, Vreeburg, M, van der Schoot, V, Stumpel, C T R M, Broen, M P G, Spruijt, L, Jongmans, M C J, Lesnik Oberstein, S A J, Plomp, A S, Misra-Isrie, M, Duijkers, F A, Louwers, M J, Szklarczyk, R, Derks, K W J, Brunner, H G, van den Wijngaard, A, van Geel, M, Blok, M J
المصدر: Koster , R , Brandão , R D , Tserpelis , D , van Roozendaal , C E P , van Oosterhoud , C N , Claes , K B M , Paulussen , A D C , Sinnema , M , Vreeburg , M , van der Schoot , V , Stumpel , C T R M , Broen , M P G , Spruijt , L , Jongmans , M C J , Lesnik Oberstein , S A J , Plomp , A S , Misra-Isrie , M , Duijkers , F A , Louwers , M ....
الإتاحة: https://doi.org/10.1038/s41525-021-00258-wTest
https://research.vumc.nl/en/publications/2f8d0576-9586-4da5-aa97-e128743fab62Test -
4دورية أكاديمية
المؤلفون: Whiley, P. J., De La Hoya, M., Thomassen, M., Becker, A., Brandão, R., Pedersen, I. S., Montagna, M., Menéndez, M., Quiles, F., Gutiérrez-Enríquez, S., Leeneer, K. D., Tenés, A., Montalban, G., Tserpelis, D., Yoshimatsu, T., Tirapo, C., Raponi, M., Caldes, T., Blanco Pérez, Ana, Santamariña, M., Guidugli, L., De Garibay, G. R., Wong, M., Tancredi, M., Fachal Vilar, Laura, Ding, Y. C., Kruse, T., Lattimore, V., Kwong, A., Chan, T. L., Colombo, M., De Vecchi, G., Caligo, M., Baralle, D., Lázaro, C., Couch, F., Radice, P., Southey, M. C., Neuhausen, S., Houdayer, C., Fackenthal, J., Van Overeem Hansen, T., Vega Gliemmo, Ana, Diez, O., Blok, R., Claes, K., Wappenschmidt, B., Walker, L., Spurdle, A. B., Brown, M. A.
مصطلحات موضوعية: BRCA1 Protein, BRCA2 Protein, Genetic Predisposition to Disease, Genetic Testing, Humans, Laboratories, Multivariate Analysis, Practice Guidelines as Topic, RNA Splice Sites, RNA Splicing, Sensitivity and Specificity
العلاقة: http://hdl.handle.net/20.500.11940/6327Test; 335146300011; 16564
الإتاحة: https://doi.org/20.500.11940/6327Test
https://doi.org/10.1373/clinchem.2013.210658Test
https://hdl.handle.net/20.500.11940/6327Test -
5دورية أكاديمية
المؤلفون: Colombo, M., Blok, M. J., Whiley, P., Santamariña Pena, Marta, Gutiérrez-Enríquez, S., Romero, A., Garre, P., Becker, A., Smith, L. D., De Vecchi, G., Brandão, R. D., Tserpelis, D., Brown, M., Blanco, A., Bonache, S., Menéndez, M., Houdayer, C., Foglia, C., Fackenthal, J. D., Baralle, D., Wappenschmidt, B., Díaz-Rubio, E., Caldés, T., Walker, L., Díez, O., Vega Gliemmo, Ana, Spurdle, A. B., Radice, P., De La Hoya, M., Investigators, kConFaB
مصطلحات موضوعية: Alternative Splicing, BRCA1 Protein, Breast, Female, Humans, Protein Isoforms, RNA, Messenger, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis
العلاقة: http://hdl.handle.net/20.500.11940/4536Test; 338630300004; 14606
الإتاحة: https://doi.org/20.500.11940/4536Test
https://doi.org/10.1093/hmg/ddu075Test
https://hdl.handle.net/20.500.11940/4536Test -
6دورية أكاديمية
المؤلفون: Brandao, R. D., van Roozendaal, K., Tserpelis, D., Blok, M. J.
المصدر: Brandao , R D , van Roozendaal , K , Tserpelis , D & Blok , M J 2013 , ' FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers ' , Human Reproduction , vol. 28 , no. 8 , pp. 2308-2311 . https://doi.org/10.1093/humrep/det254Test
مصطلحات موضوعية: BRCA1, FMR1, primary ovarian insufficiency, embryo rescue, preimplantation genetic diagnostics
الوقت: 2
الإتاحة: https://doi.org/10.1093/humrep/det254Test
https://cris.maastrichtuniversity.nl/en/publications/5afcc49f-552d-4f59-af87-5a83cbdab1f4Test -
7دورية أكاديمية
المؤلفون: Paulussen, A DC, Schrander-Stumpel, Connie, Tserpelis, D, Spee, K, Stegmann, Sander, Mancini, Grazia Maria Stefania, Brooks, Alice S, Collée, J M, Maat-Kievit, Anneke, Simon, M EH, Van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, W S, Herkert, J C, Van Essen, Ton J., Lichtenbelt, K D, Van Haeringen, Arie, Kwee, Mei Lan, Lachmeijer, A. M.A., Tan-Sindhunata, M.B., Van Maarle, Merel, Arens, Y H, Smeets, Eric, De Die-Smulders, Christine E.M., Engelen, John J, Smeets, Bert, Herbergs, J
المساهمون: Department of Clinical Genetics
المصدر: ISSN: 1018-4813.
مصطلحات موضوعية: Holoprosencephaly, genotype-phenotype, mutations
العلاقة: hal-00544822; https://hal.archives-ouvertes.fr/hal-00544822Test; https://hal.archives-ouvertes.fr/hal-00544822/documentTest; https://hal.archives-ouvertes.fr/hal-00544822/file/PEER_stage2_10.1038%252Fejhg.2010.70.pdfTest
الإتاحة: https://doi.org/10.1038/ejhg.2010.70Test
https://hal.archives-ouvertes.fr/hal-00544822Test
https://hal.archives-ouvertes.fr/hal-00544822/documentTest
https://hal.archives-ouvertes.fr/hal-00544822/file/PEER_stage2_10.1038%252Fejhg.2010.70.pdfTest -
8دورية أكاديمية
المؤلفون: Fackenthal, J., Yoshimatsu, T., Zhang, B., Ruiz de Garibay, G., Colombo, M., De Vecchi, G., Ayoub, S., Lal, K., Olopade, O., Vega, A., Santamarina, M., Blanco, A., Becker, A., Walker, L., Lopez-Perolio, I., Thomassen, M., Parsons, M., Whiley, P., Blok, M., Brandao, R., Tserpelis, D., Baralle, D., Montalban, G., Gutierrez-Enriquez, S., Diez, O., Lazaro, C., Spurdle, A., Radice, P., de la Hoya, M.
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/389799/1/s1-ln225363771708966328-1939656818Hwf-1438901300IdV51794495422536377PDF_HI0001.pdfTest; Fackenthal, J., Yoshimatsu, T., Zhang, B., Ruiz de Garibay, G., Colombo, M., De Vecchi, G., Ayoub, S., Lal, K., Olopade, O., Vega, A., Santamarina, M., Blanco, A., Becker, A., Walker, L., Lopez-Perolio, I., Thomassen, M., Parsons, M., Whiley, P., Blok, M., Brandao, R., Tserpelis, D., Baralle, D., Montalban, G., Gutierrez-Enriquez, S., Diez, O., Lazaro, C., Spurdle, A., Radice, P. and de la Hoya, M. (2016) Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Journal of Medical Genetics, 53 (8), 548-558. (doi:10.1136/jmedgenet-2015-103570 ). (PMID:27060066 )
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9مؤتمر
المؤلفون: Schrander-Stumpel, CTRM, Blok, MJ, Tserpelis, D, Posma-Velter, C, Rusu, C, Devriendt, Koenraad, Schrander, J, Detisch, Y, Smeets, HJ, Stegmann, APA, Paulussen, ADC
العلاقة: Genetic Counseling vol:23 issue:1 pages:112; 22nd European Meeting on Dysmorphology location:Strasbourg, France date:8-9 September 2011; https://lirias.kuleuven.be/handle/123456789/347638Test
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10مؤتمر
المؤلفون: Schrander-Stumpel, C, Blok, M, Tserpelis, D, Postma-Velter, C, Rusu, C, Devriendt, Koenraad, Schrander, J, Detisch, Y, Smeets, B, Stegmann, A, Paulussen, A
العلاقة: Proceedings; European Human Genetics Conference location:Amsterdam, The Netherlands date:28-31 May, 2011; https://lirias.kuleuven.be/handle/123456789/337836Test
النص الكامل