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

由 Reumkens, Kelly, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.
發表在 Fam Cancer (2019)

Non-invasive prenatal testing: ethical issues explored

由 de Jong, Antina, Dondorp, Wybo J, de Die-Smulders, Christine E M, Frints, Suzanne G M, de Wert, Guido M W R
出版 2010

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

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

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

由 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
出版 2013

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

由 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.
發表在 Eur J Hum Genet (2020)

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

由 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.
發表在 Mov Disord Clin Pract (2021)

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

由 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
出版 2012

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

由 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.
出版 2000

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

由 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
發表在 J Med Genet (2017)

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

由 Drüsedau, Marion, Dreesen, Jos C, Derks-Smeets, Inge, Coonen, Edith, van Golde, Ron, van Echten-Arends, Jannie, Kastrop, Peter M M, Blok, Marinus J, Gómez-García, Encarna, Geraedts, Joep P, Smeets, Hubert J, de Die-Smulders, Christine E, Paulussen, Aimée D
出版 2013

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

由 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
發表在 Hum Reprod (2018)

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

由 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
發表在 RNA (2019)

Phenotypic and molecular insights into CASK-related disorders in males

由 Moog, Ute, Bierhals, Tatjana, Brand, Kristina, Bautsch, Jan, Biskup, Saskia, Brune, Thomas, Denecke, Jonas, de Die-Smulders, Christine E, Evers, Christina, Hempel, Maja, Henneke, Marco, Yntema, Helger, Menten, Björn, Pietz, Joachim, Pfundt, Rolph, Schmidtke, Jörg, Steinemann, Doris, Stumpel, Constance T, Van Maldergem, Lionel, Kutsche, Kerstin
發表在 Orphanet J Rare Dis (2015)

Preimplantation Genetic Testing for Monogenic Kidney Disease

由 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.
發表在 Clin J Am Soc Nephrol (2020)

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

由 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.
發表在 Genet Med (2021)

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

由 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
發表在 Fam Cancer (2016)

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

由 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.
發表在 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...

由 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.
發表在 Fam Cancer (2018)

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

由 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.
發表在 J Genet Couns (2018)

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

由 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.
發表在 J Community Genet (2020)