Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in heredita...

Bằng Reumkens, Kelly, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
Xuất bản năm Fam Cancer (2019)

Non-invasive prenatal testing: ethical issues explored

Bằng de Jong, Antina, Dondorp, Wybo J, de Die-Smulders, Christine E M, Frints, Suzanne G M, de Wert, Guido M W R
Được phát hành 2010

An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy

Bằng Hendriksen, Ruben G. F., Aalbers, Marlien W., Hendriksen, Jos G. M., de Die-Smulders, Christine E. M., Hoogland, Govert, Vles, Johan S. H.
Xuất bản năm Child Neurol Open (2016)

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

Bằng Helderman-van den Enden, Apollonia T J M, Madan, Kamlesh, Breuning, Martijn H, van der Hout, Annemieke H, Bakker, Egbert, de Die-Smulders, Christine E M, Ginjaar, Hendrika B
Được phát hành 2013

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

Bằng Joosten, Isis B. T., Hellebrekers, Debby M. E. I., de Greef, Bianca T. A., Smeets, Hubert J. M., de Die-Smulders, Christine E. M., Faber, Catharina G., Gerrits, Monique M.
Xuất bản năm Eur J Hum Genet (2020)

Disease Onset in Huntington's Disease: When Is the Conversion?

Bằng Oosterloo, Mayke, de Greef, Bianca T.A., Bijlsma, Emilia K., Durr, Alexandra, Tabrizi, Sarah J., Estevez‐Fraga, Carlos, de Die‐Smulders, Christine E.M., Roos, Raymund A.C.
Xuất bản năm Mov Disord Clin Pract (2021)

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Bằng Van Rij, Maartje C, De Rademaeker, Marjan, Moutou, Céline, Dreesen, Jos C F M, De Rycke, Martine, Liebaers, Inge, Geraedts, Joep P M, De Die-Smulders, Christine E M, Viville, Stéphane
Được phát hành 2012

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

Bằng van den Bosch, Bianca J. C., de Coo, René F. M., Scholte, Hans R., Nijland, Jeroen G., van den Bogaard, Ruud, de Visser, Marianne, de Die-Smulders, Christine E. M., Smeets, Hubert J. M.
Được phát hành 2000

De novo mtDNA point mutations are common and have a low recurrence risk

Bằng Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Xuất bản năm J Med Genet (2017)

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Bằng Otten, Auke BC, Sallevelt, Suzanne CEH, Carling, Phillippa J., Dreesen, Joseph C.F.M., Drüsedau, Marion, Spierts, Sabine, Paulussen, Aimee D.C., de Die-Smulders, Christine E.M., Herbert, Mary, Chinnery, Patrick F., Samuels, David C., Lindsey, Patrick, Smeets, Hubert JM
Xuất bản năm Hum Reprod (2018)

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

Bằng Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., De Die-Smulders, Christine E.M., Paulussen, Aimee D.C., Pinson, Lucile, Toutain, Annick, Roifman, Chaim M., Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent
Xuất bản năm RNA (2019)

Preimplantation Genetic Testing for Monogenic Kidney Disease

Bằng Snoek, Rozemarijn, Stokman, Marijn F., Lichtenbelt, Klaske D., van Tilborg, Theodora C., Simcox, Cindy E., Paulussen, Aimée D.C., Dreesen, Jos C.M.F., van Reekum, Franka, Lely, A. Titia, Knoers, Nine V.A.M., de Die-Smulders, Christine E.M., van Eerde, Albertien M.
Xuất bản năm Clin J Am Soc Nephrol (2020)

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

Bằng Sallevelt, Suzanne C. E. H., Stegmann, Alexander P. A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E. M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D. C.
Xuất bản năm Genet Med (2021)

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Bằng Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
Xuất bản năm Fam Cancer (2016)

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

Bằng Derks-Smeets, Inge A. P., Schrijver, Lieske H., de Die-Smulders, Christine E. M., Tjan-Heijnen, Vivianne C. G., van Golde, Ron J. T., Smits, Luc J., Caanen, Beppy, van Asperen, Christi J., Ausems, Margreet, Collée, Margriet, van Engelen, Klaartje, Kets, C. Marleen, van der Kolk, Lizet, Oosterwijk, Jan C., van Os, Theo A. M., Rookus, Matti A., van Leeuwen, Flora E., Gómez García, Encarna B.
Xuất bản năm Br J Cancer (2018)

The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot...

Bằng Reumkens, Kelly, Tummers, Marly H. E., Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, C. Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
Xuất bản năm Fam Cancer (2018)

Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision‐making

Bằng Reumkens, Kelly, Tummers, Marly H. E., Gietel‐Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, C. Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan‐Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die‐Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
Xuất bản năm J Genet Couns (2018)

Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

Bằng Reumkens, Kelly, Tummers, Marly H. E., Severijns, Yil, Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
Xuất bản năm J Community Genet (2020)

Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience

Bằng Vriens, Ingeborg J. H., ter Welle-Butalid, Elena M., de Boer, Maaike, de Die-Smulders, Christine E. M., Derhaag, Josien G., Geurts, Sandra M. E., van Hellemond, Irene E. G., Luiten, Ernest J. T., Dercksen, M. Wouter, Lemaire, Bea M. D., van Haaren, Els R. M., Vriens, Birgit E. P. J., van de Wouw, Agnes J., van Riel, Anne-marie M. G. H., Janssen-Engelen, Sandra L. E., van de Poel, Marlène H. W., Schepers-van der Sterren, Ester E. M., van Golde, Ron J. T., Tjan-Heijnen, Vivianne C. G.
Xuất bản năm Breast Cancer Res Treat (2020)

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Bằng van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.
Xuất bản năm Am J Hum Genet (2019)