Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

por Oosterloo, Mayke, Bijlsma, Emilia K., de Die-Smulders, Christine, Roos, Raymund A. C.
Publicado 2020

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

Predictive genetic testing in Huntington’s disease: should a neurologist be involved?

por Oosterloo, Mayke, Bijlsma, Emilia K., Verschuuren-Bemelmans, Corien C., Schouten, Meyke I., de Die-Smulders, Christine, Roos, Raymund A. C.
Publicado 2020

Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process

por van der Hout, Sanne, Woudstra, Anke J., Dondorp, Wybo, Sallevelt, Suzanne, de Die-Smulders, Christine, Paulussen, Aimee D. C., de Wert, Guido
Publicado 2023

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

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

por Hermans, Mieke CE, Faber, Catharina G, Bekkers, Sebastiaan CAM, de Die-Smulders, Christine EM, Gerrits, Monique M, Merkies, Ingemar SJ, Snoep, Gabriel, Pinto, Yigal M, Schalla, Simon
Publicado 2012

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

Effect of Plasmapheresis on Cholestatic Pruritus and Autotaxin Activity During Pregnancy

por Heerkens, Marieke, Dedden, Suzanne, Scheepers, Hubertina, Van Paassen, Pieter, Masclee, Ad, de Die‐Smulders, Christine, Olde Damink, Steven W.M., Schaap, Frank G., Jansen, Peter, Koek, Ger, Beuers, Ulrich, Verbeek, Jef
Publicado 2019

Liquid biopsy: state of reproductive medicine and beyond

por Schobers, Gaby, Koeck, Rebekka, Pellaers, Dominique, Stevens, Servi J C, Macville, Merryn V E, Paulussen, Aimée D C, Coonen, Edith, van den Wijngaard, Arthur, de Die-Smulders, Christine, de Wert, Guido, Brunner, Han G, Zamani Esteki, Masoud
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

Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing

por van Dijk, Wanwisa, Derks, Kasper, Drüsedau, Marion, Meekels, Jeroen, Koeck, Rebekka, Essers, Rick, Dreesen, Joseph, Coonen, Edith, de Die-Smulders, Christine, Stevens, Servi J C, Brunner, Han G, van den Wijngaard, Arthur, Paulussen, Aimée D C, Zamani Esteki, Masoud
Publicado 2022

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

Phenotypic and molecular insights into CASK-related disorders in males

por 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
Publicado 2015

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

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

por Heijligers, Malou, van Montfoort, Aafke, Meijer-Hoogeveen, Madelon, Broekmans, Frank, Bouman, Katelijne, Homminga, Irene, Dreesen, Jos, Paulussen, Aimee, Engelen, John, Coonen, Edith, van der Schoot, Vyne, van Deursen-Luijten, Marieke, Muntjewerff, Nienke, Peeters, Andrea, van Golde, Ron, van der Hoeven, Mark, Arens, Yvonne, de Die-Smulders, Christine
Publicado 2018

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