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

por Reumkens, Kelly, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
Publicado 2019

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

por Hendriksen, Ruben G. F., Aalbers, Marlien W., Hendriksen, Jos G. M., de Die-Smulders, Christine E. M., Hoogland, Govert, Vles, Johan S. H.
Publicado 2016

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

por 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
Publicado 2013

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

por 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.
Publicado 2021

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

por 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
Publicado 2017

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

por 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
Publicado 2019

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

por Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., Lassche, Saskia
Publicado 2021

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

por Vernimmen, Vivian, Paulussen, Aimée D. C., Dreesen, Jos C. F. M., van Golde, Ron J., Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L., Homminga, Irene, Derijck, Alwin A. H. A., Brandts, Lloyd, Stumpel, Constance T. R. M., de Die-Smulders, Christine E. M.
Publicado 2023

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

por 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.
Publicado 2021

The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study

por Severijns, Yil, Heijmans, Maartje W. F., de Die‐Smulders, Christine E. M., Bijlsma, Emilia K., Corsten‐Janssen, Nicole, Joosten, Sara J. R., van Kuijk, Sander M. J., Lichtenbelt, Klaske D., Ottenheim, Cecile P. E., Stuurman, Kyra E., Tan‐Sindhunata, Gita M. B., de Vries, Hein, van Osch, Liesbeth A. D. M.
Publicado 2022

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

por 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
Publicado 2016

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

por 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.
Publicado 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...

por 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.
Publicado 2018

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

por 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.
Publicado 2018

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

por 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.
Publicado 2020

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

por 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.
Publicado 2020