المؤلفون: Severijns, Y., de Die-Smulders, C. E. M., Gültzow, T., de Vries, H., van Osch, L. A. D. M.

المساهمون: ZonMw

المصدر: Journal of Community Genetics ; volume 12, issue 3, page 325-335 ; ISSN 1868-310X 1868-6001

الاتاحة: http://dx.doi.org/10.1007/s12687-021-00510-x
https://link.springer.com/content/pdf/10.1007/s12687-021-00510-x.pdf
https://link.springer.com/article/10.1007/s12687-021-00510-x/fulltext.html

المؤلفون: Jacobs, C J, Vreeburg, M, de Die-Smulders, C E M, Staal, H M, Lauwers, T

المصدر: Jacobs , C J , Vreeburg , M , de Die-Smulders , C E M , Staal , H M & Lauwers , T 2020 , ' Surgical management for isolated macrodactyly in an adult PIK3CA mutant ' , JPRAS Open , vol. 26 , pp. 86-90 . https://doi.org/10.1016/j.jpra.2020.10.002

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/14163deb-d84c-4c36-8b0a-89336f54ba33
https://doi.org/10.1016/j.jpra.2020.10.002

المؤلفون: De Krom, G., Severijns, Y., Vlieg, W. L., Arens, H. J. M., Van Golde, R. J. T., De Die-Smulders, C. E. M., Van Osch, L. A. D. M.

المصدر: De Krom , G , Severijns , Y , Vlieg , W L , Arens , H J M , Van Golde , R J T , De Die-Smulders , C E M & Van Osch , L A D M 2020 , ' Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality : a qualitative exploration ' , Journal of Assisted Reproduction and Genetics , vol. 37 , no. 7 , pp. 1719-1727 . https://doi.org/10.1007/s10815-020-01810-w

مصطلحات موضوعية: Preimplantation genetic testing, Structural chromosomal abnormalities, Reproductive decision-making, Qualitative analysis, PREIMPLANTATION GENETIC DIAGNOSIS, PREGNANCY FOLLOW-UP, DECISION-MAKING, HEREDITARY BREAST, EXPERIENCES, ATTITUDES, AWARENESS, MUTATION, CARRIERS, JANUARY

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/24cab782-1353-4a08-9e91-119623cf580d
https://doi.org/10.1007/s10815-020-01810-w

المؤلفون: van der Schoot, V., Dondorp, W., Dreesen, J. C. F. M., Coonen, E., Paulussen, A. D. C., de Wert, G., de Die-Smulders, C. E. M.

المصدر: van der Schoot , V , Dondorp , W , Dreesen , J C F M , Coonen , E , Paulussen , A D C , de Wert , G & de Die-Smulders , C E M 2019 , ' Preimplantation genetic testing for more than one genetic condition : clinical and ethical considerations and dilemmas ' , Human Reproduction , vol. 34 , no. 6 , pp. 1146-1154 . https://doi.org/10.1093/humrep/dez059

مصطلحات موضوعية: preimplantation genetic testing, combination PGT, ethics, indications, transfer decisions, ESHRE PGD CONSORTIUM, PRACTICE GUIDELINES, DIAGNOSIS

وصف الملف: application/pdf

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f0d8089e-503b-4dad-b269-efb3fbcc3cc9
https://doi.org/10.1093/humrep/dez059
https://cris.maastrichtuniversity.nl/ws/files/60598795/Dondorp_2019_preimplantation_genetic_testing_for.pdf

المؤلفون: Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Tjan-Heijnen, V. C. G., Derks-Smeets, I. A. P., van Golde, R., Gomez-Garcia, E., van Osch, L. A. D. M.

المصدر: Gietel-Habets , J J G , de Die-Smulders , C E M , Tjan-Heijnen , V C G , Derks-Smeets , I A P , van Golde , R , Gomez-Garcia , E & van Osch , L A D M 2018 , ' Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer ' , Reproductive Biomedicine Online , vol. 36 , no. 2 , pp. 137-144 . https://doi.org/10.1016/j.rbmo.2017.11.005

مصطلحات موضوعية: Preimplantation genetic diagnosis (PGD), BRCA mutation, Professionals, Awareness, Knowledge, Acceptability, PREDISPOSITION SYNDROMES, PGD, PHYSICIANS, BRCA1

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/cb23caf7-3481-4469-a868-19b76cb782bc
https://doi.org/10.1016/j.rbmo.2017.11.005

المؤلفون: Reumkens, Kelly, van Oudheusden, A. J. G., Gietel-Habets, J. J. G., Tummers, M. H. E., de Die-Smulders, C. E. M., van Osch, L. A. D. M.

المصدر: Reumkens , K , van Oudheusden , A J G , Gietel-Habets , J J G , Tummers , M H E , de Die-Smulders , C E M & van Osch , L A D M 2018 , ' Reproductive Decision Support : Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists ' , Journal of Genetic Counseling , vol. 27 , no. 4 , pp. 920-926 . https://doi.org/10.1007/s10897-017-0204-6

مصطلحات موضوعية: Oncology, Hereditary cancer, Counseling, Childwish, Informed decision-making, Decisionaid, Prenatal diagnosis and preimplantation genetic diagnosis, DIAGNOSIS, PERCEPTIONS, PARENTS, BREAST, WOMEN

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/a5402c35-4f35-4d44-a24a-1404355d112f
https://doi.org/10.1007/s10897-017-0204-6
https://link.springer.com/content/pdf/10.1007%2Fs10897-017-0204-6.pdf

المؤلفون: Heijligers, M, Verheijden, L M M, Jonkman, L M, van der Sangen, M, Meijer-Hoogeveen, M, Arens, Y, van der Hoeven, M A, de Die-Smulders, C E M

المساهمون: ZonMw

المصدر: Human Reproduction ; volume 33, issue 11, page 2150-2157 ; ISSN 0268-1161 1460-2350

الاتاحة: https://doi.org/10.1093/humrep/dey302
http://academic.oup.com/humrep/article-pdf/33/11/2150/26121173/dey302.pdf

المؤلفون: Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Derks-Smeets, I. A. P., Tibben, A., Tjan-Heijnen, V. C. G., van Golde, R., Gomez-Garcia, E., Kets, C. M., van Osch, L. A. D. M.

المصدر: Gietel-Habets , J J G , de Die-Smulders , C E M , Derks-Smeets , I A P , Tibben , A , Tjan-Heijnen , V C G , van Golde , R , Gomez-Garcia , E , Kets , C M & van Osch , L A D M 2017 , ' Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners ' , Human Reproduction , vol. 32 , no. 3 , pp. 588-597 . https://doi.org/10.1093/humrep/dew352

مصطلحات موضوعية: Preimplantation genetic diagnosis (PGD), prenatal diagnosis (PND), hereditary breast and ovarian cancer (HBOC), BRCA mutation, awareness, knowledge, acceptability, PREIMPLANTATION GENETIC DIAGNOSIS, OVARIAN-CANCER, HEREDITARY BREAST, DECISION-MAKING, PRENATAL-DIAGNOSIS, BEHAVIOR-CHANGE, CARRIERS, METAANALYSIS, PERCEPTIONS, CHALLENGE

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d92477ab-6ac3-4662-bf1a-465d4de5f135
https://doi.org/10.1093/humrep/dew352

المؤلفون: Derks-Smeets, I. A. P., van Tilborg, T. C., van Montfoort, A., Smits, L., Torrance, H. L., Meijer-Hoogeveen, M., Broekmans, F., Dreesen, J. C. F. M., Paulussen, A. D. C., Tjan-Heijnen, V. C. G., Homminga, I., van den Berg, M. M. J., Ausems, M. G. E. M., de Rycke, M., de Die-Smulders, C. E. M., Verpoest, W., van Golde, R.

المصدر: Derks-Smeets , I A P , van Tilborg , T C , van Montfoort , A , Smits , L , Torrance , H L , Meijer-Hoogeveen , M , Broekmans , F , Dreesen , J C F M , Paulussen , A D C , Tjan-Heijnen , V C G , Homminga , I , van den Berg , M M J , Ausems , M G E M , de Rycke , M , de Die-Smulders , C E M , Verpoest , W & van Golde , R 2017 , ' BRCA1 mutation carriers have ....

مصطلحات موضوعية: BRCA1/2 mutations, Ovarian reserve, Mature oocytes, IVF, Preimplantation genetic diagnosis, IN-VITRO FERTILIZATION, BREAST-CANCER, PREMATURE MENOPAUSE, HEREDITARY BREAST, NATURAL MENOPAUSE, FEMALE FERTILITY, WOMEN, HORMONE, RISKS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/973f922d-f307-453a-9cc3-22c0cd0a73b9
https://doi.org/10.1007/s10815-017-1014-3

المؤلفون: Bierau, J., van Kuilenburg, A. B. P., Meijer, J., Rubio-Gozalbo, M. E., Mul, A. N. P. M., de Die-Smulders, C. E. M., Weber, P., Mori, A. Capone, Fowler, B., Macke, K., Sass, J. O., Meinsma, R., Hennermann, J. B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., Nicolai, J., Hennekam, R. C. M., Baykal, T., Gokcay, Gülden Fatma

المساهمون: University of Amsterdam ,, 194871

مصطلحات موضوعية: Moleküler Biyoloji ve Genetik, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Yaşam Bilimleri (LIFE), Yaşam Bilimleri, Sitogenetik, Temel Bilimler

Relation: Nucleosides, nucleotides & nucleic acids; van Kuilenburg A. B. P. , Meijer J., Gokcay G. F. , Baykal T., Rubio-Gozalbo M. E. , Mul A. N. P. M. , de Die-Smulders C. E. M. , Weber P., Mori A. C. , Bierau J., et al., "Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.", Nucleosides, nucleotides & nucleic acids, cilt.29, ss.509-14, 2010; av_3ba76e5e-ce2a-445a-bda1-357bfab35f81; vv_1032021; http://hdl.handle.net/20.500.12627/44053; https://doi.org/10.1080/15257771003730227; 29; 509; 14

الاتاحة: https://hdl.handle.net/20.500.12627/44053
https://doi.org/10.1080/15257771003730227

المؤلفون: Derks-Smeets, I. A. P., Gietel-Habets, J. J. G., Tibben, A., Tjan-Heijnen, V. C. G., Meijer-Hoogeveen, M., Geraedts, J. P. M., van Golde, R., Gomez-Garcia, E., van den Bogaart, E., van Hooijdonk, M., de Die-Smulders, C. E. M., van Osch, L. A. D. M.

المصدر: Human Reproduction ; volume 29, issue 5, page 1103-1112 ; ISSN 0268-1161 1460-2350

الاتاحة: http://dx.doi.org/10.1093/humrep/deu034
http://academic.oup.com/humrep/article-pdf/29/5/1103/9544567/deu034.pdf

المؤلفون: de Die-Smulders, C. E. M., de Wert, G. M. W. R., Liebaers, I., Tibben, A., Evers-Kiebooms, G.

المصدر: de Die-Smulders , C E M , de Wert , G M W R , Liebaers , I , Tibben , A & Evers-Kiebooms , G 2013 , ' Reproductive options for prospective parents in families with Huntingtons disease: clinical, psychological and ethical reflections ' , Human Reproduction Update , vol. 19 , no. 3 , pp. 304-315 . https://doi.org/10.1093/humupd/dms058

مصطلحات موضوعية: reproduction, Huntingtons disease, prenatal diagnosis, preimplantation genetic diagnosis

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/8996fd0a-f803-461a-b771-c648bff07942
https://doi.org/10.1093/humupd/dms058

المؤلفون: Mersy, E., Smits, L. J. M., van Winden, L. A. A. P., de Die-Smulders, C. E. M., Paulussen, A. D. C., Macville, M. V. E., Coumans, A. B. C., Frints, S. G. M.

المصدر: Mersy , E , Smits , L J M , van Winden , L A A P , de Die-Smulders , C E M , Paulussen , A D C , Macville , M V E , Coumans , A B C & Frints , S G M 2013 , ' Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 ' , Human Reproduction Update , vol. 19 , no. 4 , pp. 318-329 . https://doi.org/10.1093/humupd/dmt001

مصطلحات موضوعية: noninvasive prenatal testing, trisomy 21, cell-free fetal DNA, RNA, QUADAS-2

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/9092bf53-0cd5-4b5e-90fb-4607817d2aa0
https://doi.org/10.1093/humupd/dmt001

المؤلفون: Van Parys, H., Wyverkens, E., Provoost, V., Ravelingien, A., Raes, I., Somers, S., Stuyver, I., De Sutter, P., Pennings, G., Buysse, A., Anttila, V. S., Salevaara, M., Suikkari, A. M., Listijono, D. R., Mooney, S., Chapman, M. G., Res Muravec, U., Pusica, S., Lomsek, M., Cizek Sajko, M., Parames, S., Semiao-Francisco, L., Sato, H., Ueno, J., van den Wijngaard, L., Mochtar, M. H., van Dam, H., van der Veen, F., van Wely, M., Derks-Smeets, I. A. P., Habets, J. J. G., Tibben, A., Tjan-Heijnen, V. C. G., Meijer-Hoogeveen, M., Geraedts, J. P. M., van Golde, R., Gomez-Garcia, E., de Die-Smulders, C. E. M., van Osch, L. A. D. M., Kets, C. M., Gullo, S.

المصدر: Human Reproduction ; volume 28, issue suppl 1, page i261-i282 ; ISSN 0268-1161 1460-2350

مصطلحات موضوعية: Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine

الاتاحة: http://dx.doi.org/10.1093/humrep/det218
http://academic.oup.com/humrep/article-pdf/28/suppl_1/i261/6754934/det218.pdf

المؤلفون: de Jong, A., Dondorp, W. J., Frints, S. G. M., de Die-Smulders, C. E. M., de Wert, G. M. W. R.

المصدر: Human Reproduction ; volume 26, issue 11, page 2915-2917 ; ISSN 0268-1161 1460-2350

الاتاحة: http://dx.doi.org/10.1093/humrep/der268
http://academic.oup.com/humrep/article-pdf/26/11/2915/1853508/der268.pdf

المؤلفون: Mertes, H., Pennings, G., Choudhary, M., Shaw, C., Nesbitt, M., Murdoch, A. P., Gudipati, M., Redhead, G., Hemingway, V., McEleny, K., Prakash, A., Stewart, J., De Wert, G., Dondorp, W. J., Liebaers, I., Geraedts, J. P. M., De Die-Smulders, C. E. M.

المصدر: Human Reproduction ; volume 26, issue Supplement 1, page i22-i24 ; ISSN 0268-1161 1460-2350

مصطلحات موضوعية: Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine

الاتاحة: http://dx.doi.org/10.1093/humrep/26.s1.16
http://academic.oup.com/humrep/article-pdf/26/suppl_1/i22/6753995/humrep-26-s1-16.pdf

المؤلفون: Giles, J., Vidal, C., Bosch, E., Zuzuarregui, J. L., Aparicio, B., Ferrando, M., Oriol, B., Pellicer, A., Frints, S. G. M., Kisters, N., Nijhuis, J. G., Offermans, J. P., Macville, M. V. E., Engelen, J. J., de Wert, G. M., de Die-Smulders, C. E. M., Gereadts, J. P., Horne, A. W., Shaw, J. L. V., Duncan, W. C., Jabbour, H. N., Critchley, H. O. D., Lebedev, I., Sazhenova, E.

المصدر: Human Reproduction ; volume 25, issue Supplement 1, page i74-i75 ; ISSN 0268-1161 1460-2350

الاتاحة: https://doi.org/10.1093/humrep/de.25.s1.49
http://academic.oup.com/humrep/article-pdf/25/suppl_1/i74/1591888/humrep-de-25-s1-49.pdf

المؤلفون: Spaans, F, Faber, C G, Smeets, H J M, Hofman, P A M, Braida, C, Monckton, D G, de Die-Smulders, C E M

مصطلحات موضوعية: Research papers

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/80/9/1029; http://dx.doi.org/10.1136/jnnp.2008.170126

الاتاحة: http://jnnp.bmj.com/cgi/content/short/80/9/1029
https://doi.org/10.1136/jnnp.2008.170126

المؤلفون: Mul, A. N. P. M., van Kuilenburg, A. B. P., Rubio-Gozalbo, M. E., Meijer, J., Nicolai, J., Ylstra, B., Hennekam, R. C. M., Gokcay, G., Vijzelaar, R., Zoetekouw, L., Miny, P., Hennermann, J. B., Meinsma, R., Sass, J. O., Macke, K., Fowler, B., Bierau, J., Mori, A. Capone, Weber, P., de Die-Smulders, C. E. M.

المساهمون: University of Amsterdam ,, 136295

مصطلحات موضوعية: İç Hastalıkları, Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT, Klinik Tıp (MED), Klinik Tıp, ENDOKRİNOLOJİ VE METABOLİZMA, Temel Bilimler, Yaşam Bilimleri, Tıbbi Ekoloji ve Hidroklimatoloji, Tıbbi Genetik, Endokrinoloji ve Metabolizma Hastalıkları, Dahili Tıp Bilimleri, Sağlık Bilimleri, Tıp, TIP, ARAŞTIRMA VE DENEYSEL, Yaşam Bilimleri (LIFE)

Relation: van Kuilenburg A. B. P. , Meijer J., Mul A. N. P. M. , Rubio-Gozalbo M. E. , Gokcay G., de Die-Smulders C. E. M. , Weber P., Mori A. C. , Bierau J., Fowler B., et al., "ANALYSIS OF SEVERELY AFFECTED PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY REVEALS LARGE INTRAGENIC REARRANGEMENTS OF DPYD AND A DE NOVO INTERSTITIAL DELETION DEL(1)(P13.3P21.3)", 11th International Conference of Inborn Errors of Metabolism, California, Amerika Birleşik Devletleri, 29 Ağustos - 02 Eylül 2009, cilt.98, ss.20; vv_1032021; av_8bac5326-1c0a-4a12-b61e-e6105b3b5769; http://hdl.handle.net/20.500.12627/94535; 98

الاتاحة: https://hdl.handle.net/20.500.12627/94535

المؤلفون: Finelli, P, Natacci, F, Bonati, M T, Gottardi, G, Engelen, J J M, de Die-Smulders, C E M, Sala, M, Giardino, D, Larizza, L

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/41/7/e90; http://dx.doi.org/10.1136/jmg.2003.016311

الاتاحة: http://jmg.bmj.com/cgi/content/short/41/7/e90
https://doi.org/10.1136/jmg.2003.016311