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Showing 10 out of a total of 10 results for collection: Electronic publications. (0.049 seconds)

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PTEN Hamartoma Tumor Syndrome and Immune Dysregulation

Eissing, M.L.L.G. ; Ripken, L.S. ; Schreibelt, G. ; Westdorp, H.; Ligtenberg, M.J. ; Netea-Maier, R.T. ; Netea, M.G. ; Vries, I.J.M. de ; Hoogerbrugge, N.

2018, Article / Letter to editor (Translational Oncology, vol. 12, iss. 2, (2018), pp. 361-367)
Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease

Plantinga, T.S. ; Arts, P.; Knarren, G.H.; Mulder, A.H.; Wakelkamp, I.M.; Hermus, A.R.M.M. ; Joosten, L.A. ; Netea, M.G. ; Gilissen, C.F. ; Veltman, J.A. ; Hoischen, A. ; Smit, J.W.A. ; Netea-Maier, R.T. et al. sine al.

2017, Article / Letter to editor (Clinical Pharmacology and Therapeutics, vol. 102, iss. 6, (2017), pp. 1017-1024)
Using a semi-conductor sequencing-based panel for genotyping of HPV-positive and HPV-negative oropharyngeal cancer: a retrospective pilot study

Ham, J.C. ; Tops, B.B.J.; Driessen, C.M.L.; Raaij, A.W. van; Slootweg, P.J. ; Melchers, W.J.G. ; Ligtenberg, M.J.L. ; Herpen, C.M.L. van

2017, Article / Letter to editor (Clinical Otolaryngology, vol. 42, iss. 3, (2017), pp. 681-686)
MST1R mutation as a genetic cause of Lady Windermere syndrome

Becker, K.L. ; Arts, P.; Jaeger, M. ; Plantinga, T.S. ; Gilissen, C.F. ; Laarhoven, A. van ; Ingen, J. van ; Veltman, J.A. ; Joosten, L.A.B. ; Hoischen, A. ; Netea, M.G. ; Iseman, M.D.; Chan, E.D.; Veerdonk, F.L. van de et al. sine al.

2017, Article / Letter to editor (European Respiratory Journal, vol. 49, iss. 1, (2017), article 1601478)
BRCA Testing by Single-Molecule Molecular Inversion Probes

Neveling, K. ; Mensenkamp, A.R. ; Derks, R; Kwint, M.P. ; Ouchene, H.; Steehouwer, M. ; Lier, L.A. van; Bosgoed, E.A.J.; Rikken, A.; Tychon, M.W.J.; Zafeiropoulou, D.; Castelein, S.; Hehir-Kwa, J.Y. ; Thung, G.W.; Hofste, T.; Lelieveld, S.H.; Bertens, S.M.; Adan, I.B.; Eijkelenboom, A.; Tops, B.B.J.; Yntema, H.G. ; Stokowy, T.; Knappskog, P.M.; Hoberg-Vetti, H.; Steen, V.M.; Boyle, E.; Martin, B.; Ligtenberg, M.J.L. ; Shendure, J.; Nelen, M.R. ; Hoischen, A. et al. sine al.

2017, Article / Letter to editor (Clinical Chemistry, vol. 63, iss. 2, (2017), pp. 503-512)
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren, R.D.A.; Mensenkamp, A.R. ; Simons, M. ; Eijkelenboom, A.; Sie, A.S.; Ouchene, H.; Asseldonk, M. van; Gomez-Garcia, E.B.; Blok, M.J.; Hullu, J.A. de ; Nelen, M.R. ; Hoischen, A. ; Bulten, J. ; Tops, B.B.J.; Hoogerbrugge, N. ; Ligtenberg, M.J.L. et al. sine al.

2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 2, (2017), pp. 226-235)
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

Zhang, J.; Wang, W.; Voer, R.M. de ; Hehir-Kwa, J.Y. ; Kamping, E.J. ; Weren, R.D.A.; Nelen, M.; Hoischen, A. ; Ligtenberg, M.J.L. ; Hoogerbrugge, N. ; Yang, X; Yang, Z; Fan, X.; Wang, L.; Liu, H.; Wang, J; Kuiper, R.P. ; Geurts van Kessel, A.H.M. et al. sine al.

2017, Article / Letter to editor (Oncotarget, vol. 8, (2017), pp. 24533-24547)
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Vogelaar, I.P.; Post, R.S. van der; Krieken, J.H. van ; Spruijt, L. ; Zelst-Stams, W.A.G. van ; Kets, C.M. ; Lubinski, J.; Jakubowska, A.; Teodorczyk, U.; Aalfs, C.M.; Hest, L.P. van; Pinheiro, H.; Oliveira, C. de; Jhangiani, S.N.; Muzny, D.M.; Gibbs, R.A.; Lupski, J.R.; Ligt, J. de ; Vissers, L.E.L.M. ; Hoischen, A. ; Gilissen, C. ; Vorst, J.M. van de ; Goeman, J.J. ; Schackert, H.K.; Ranzani, G.N.; Molinaro, V.; Garcia, E.B.; Hes, F.J.; Holinski-Feder, E.; Genuardi, M.; Ausems, M.; Sijmons, R.H.; Wagner, A.; Kolk, L.E. van der; Bjornevoll, I.; Hoberg-Vetti, H.; Geurts van Kessel, A.H.M. ; Kuiper, R.P. ; Ligtenberg, M.J.L. ; Hoogerbrugge, N. et al. sine al.

2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 11, (2017), pp. 1246-1252)
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

Vogelaar, I.P.; Ligtenberg, M.J. ; Post, R.S. van der; Voer, R.M. de ; Kets, C.M. ; Jansen, T.J. ; Jacobs, L. ; Schreibelt, G. ; Vries, I.J. de ; Netea, M.G. ; Hoogerbrugge, N. et al. sine al.

2016, Article / Letter to editor (Familial Cancer, vol. 15, iss. 2, (2016), pp. 289-296)
Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Schuurs-Hoeijmakers, J.H.M. ; Geraghty, M.T.; Kamsteeg, E.J. ; Ben-Salem, S.; Bot, S.T. de ; Nijhof, B.; van de, V., II; Graaf, M. van der ; Nobau, A.C.; Otte-Holler, I. ; Vermeer, S. ; Smith, A.C.; Humphreys, P.; Schwartzentruber, J.; Consortium, F.C.; Ali, B.R.; Al-Yahyaee, S.A.; Tariq, S.; Pramathan, T.; Bayoumi, R.; Kremer, H.P.H. ; Warrenburg, B.P.C. van de ; van den Akker, W.M.; Gilissen, C.F.H.A. ; Veltman, J.A. ; Janssen, I.M. ; Vulto-van Silfhout, A.T. ; van der Velde-Visser, S.; Lefeber, D.J. ; Diekstra, A.; Erasmus, C.E. ; Willemsen, M.A.A.P. ; Peart-Vissers, L.E.L.M. ; Lammens, M.M.Y. ; Bokhoven, J.H.L.M. van ; Brunner, H.G. ; Wevers, R.A. ; Schenck, A. ; Al-Gazali, L.; Vries, L.B.A. de ; Brouwer, A.P.M. de et al. sine al.

2012, Article / Letter to editor (American Journal of Human Genetics, vol. 91, iss. 6, (2012), pp. 1073-1081)

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