Load-induced deformation of the tibia and its effect on implant loosening detection
Ter Wee, M A, Dobbe, J G G, Buijs, G S, Kievit, A J, Schafroth, M U, Maas, M, Blankevoort, L, Streekstra, G J
Published in Scientific reports (08.12.2023)
Published in Scientific reports (08.12.2023)
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Distinct genetic forms of frontotemporal dementia
Seelaar, H, Kamphorst, W, Rosso, S M, Azmani, A, Masdjedi, R, de Koning, I, Maat-Kievit, J A, Anar, B, Donker Kaat, L, Breedveld, G J, Dooijes, D, Rozemuller, J M, Bronner, I F, Rizzu, P, van Swieten, J C
Published in Neurology (14.10.2008)
Published in Neurology (14.10.2008)
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The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M
Published in Orphanet journal of rare diseases (12.11.2019)
Published in Orphanet journal of rare diseases (12.11.2019)
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Journal Article
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
Bonifati, V, Rohé, C F, Breedveld, G J, Fabrizio, E, De Mari, M, Tassorelli, C, Tavella, A, Marconi, R, Nicholl, D J, Chien, H F, Fincati, E, Abbruzzese, G, Marini, P, De Gaetano, A, Horstink, M W, Maat-Kievit, J A, Sampaio, C, Antonini, A, Stocchi, F, Montagna, P, Toni, V, Guidi, M, Dalla Libera, A, Tinazzi, M, De Pandis, F, Fabbrini, G, Goldwurm, S, de Klein, A, Barbosa, E, Lopiano, L, Martignoni, E, Lamberti, P, Vanacore, N, Meco, G, Oostra, B A
Published in Neurology (12.07.2005)
Published in Neurology (12.07.2005)
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Journal Article
Does Consulting an Occupational Medicine Specialist Decrease Time to Return to Work Among Total Knee Arthroplasty Patients? A 12-Month Prospective Multicenter Cohort Study
van Zaanen, Y., Kievit, A. J., van Geenen, R. C. I., Pahlplatz, T. M. J., Hoozemans, M. J. M., Blankevoort, L., Schafroth, M. U., Haverkamp, D., Vervest, T. M. J. S., Das, D. H. P. W., Scholtes, V. A., van der Beek, A. J., Kuijer, P. P. F. M.
Published in Journal of occupational rehabilitation (01.06.2023)
Published in Journal of occupational rehabilitation (01.06.2023)
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Journal Article
Whole exome sequencing of known eye genes reveals genetic causes for high myopia
Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M
Published in Human molecular genetics (29.09.2022)
Published in Human molecular genetics (29.09.2022)
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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
Nellist, Mark, Brouwer, Rutger W W, Kockx, Christel E M, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike M P, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke J A, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred F J
Published in BMC medical genetics (25.02.2015)
Published in BMC medical genetics (25.02.2015)
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Journal Article
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
van de Warrenburg, B P C, Sinke, R J, Verschuuren-Bemelmans, C C, Scheffer, H, Brunt, E R, Ippel, P F, Maat-Kievit, J A, Dooijes, D, Notermans, N C, Lindhout, D, Knoers, N V A M, Kremer, H P H
Published in Neurology (12.03.2002)
Published in Neurology (12.03.2002)
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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Translational psychiatry (01.10.2022)
Published in Translational psychiatry (01.10.2022)
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Journal Article
Outcome of Total Parathyroidectomy and Autotransplantation as Treatment of Secondary and Tertiary Hyperparathyroidism in Children and Adults
Kievit, A. J., Tinnemans, J. G. M., Idu, M. M., Groothoff, J. W., Surachno, S., Aronson, D. C.
Published in World journal of surgery (01.05.2010)
Published in World journal of surgery (01.05.2010)
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Journal Article
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008
van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben, A, de Die-Smulders, CEM, Bijlsma, EK
Published in Clinical genetics (01.01.2014)
Published in Clinical genetics (01.01.2014)
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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene
Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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Journal Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S
Published in Journal of medical genetics (01.07.2013)
Published in Journal of medical genetics (01.07.2013)
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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)
Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Ben, Breuning, Martijn H., Losekoot, Monique, den Dunnen, Johan T., van de Warrenburg, Bart P., Maat-Kievit, Anneke J.A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Journal Article
A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis
Bouwkamp, Christian G., Kievit, Anneke J. A., Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Bonifati, Vincenzo, Kushner, Steven A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
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Journal Article
Predicted osteotomy planes are accurate when using patient-specific instrumentation for total knee arthroplasty in cadavers: a descriptive analysis
Kievit, A. J., Dobbe, J. G. G., Streekstra, G. J., Blankevoort, L., Schafroth, M. U.
Published in Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA (01.06.2018)
Published in Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA (01.06.2018)
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