Percutaneous tricuspid valve repair using MitraClip® for the treatment of severe tricuspid valve regurgitation in a patient with congenitally corrected transposition of the great a...

por van Melle, J. P., Schurer, R., Willemsen, M., Hoendermis, E. S., van den Heuvel, A. F. M.
Publicado 2016

Smoking Cessation Treatment for Parents Who Dual Use E-Cigarettes and Traditional Cigarettes

por Nabi-Burza, Emara, Drehmer, Jeremy E., Walters, Bethany Hipple, Willemsen, M. C., Zeegers, Maurice P. A., Winickoff, Jonathan P.
Publicado 2021

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

por Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
Publicado 2016

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective

por Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., Willemsen, M. A. A. P.
Publicado 2019

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

por Dekker, M. C. J., Sadiq, A. M., Mc Larty, R., Mbwasi, R. M., Willemsen, M. A. A. P., Waterham, H. R., Hamel, B. C.
Publicado 2019

Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design

por Houwen-van Opstal, S.L.S., van den Elzen, Y.M.E.M., Jansen, M., Willemsen, M.A.A.P., Cup, E.H.C., De Groot, I.J.M.
Publicado 2020

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes

por Tseng, L.A., Teela, L., Janssen, M.C., Bok, L.A., Willemsen, M.A.A.P., Neuteboom, R.F., Haverman, L., Gospe, S.M., Coughlin, C.R., van Karnebeek, C.D.M.
Publicado 2022

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

por Reiman, A, Srinivasan, V, Barone, G, Last, J I, Wootton, L L, Davies, E G, Verhagen, M M, Willemsen, M A, Weemaes, C M, Byrd, P J, Izatt, L, Easton, D F, Thompson, D J, Taylor, A M
Publicado 2011

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

por Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.
Publicado 2012

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

por van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., Kroos, M. A., Derks, T. G. J., Rubio-Gozalbo, M. E., Willemsen, M. A., Lachmann, R. H., Mengel, E., Michelakakis, H., de Jongste, J. C., Reuser, A. J. J., van der Ploeg, A. T.
Publicado 2016

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study

por Ketelslegers, I. A., Catsman-Berrevoets, C. E., Neuteboom, R. F., Boon, M., van Dijk, K. G. J., Eikelenboom, M. J., Gooskens, R. H. J. M., Niks, E. H., Overweg-Plandsoen, W. C. G., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., de Rijk-van Andel, J. F., Samijn, J. P. A., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Vles, J. S. H., Willemsen, M. A. A. P., Rodrigues Pereira, R., Hintzen, R. Q.
Publicado 2012

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

por de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P. A., Schippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q., Neuteboom, R. F.
Publicado 2018

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

por Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M
Publicado 2016