Tom J de Koning

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2017
Mark A post hoc study on gene panel analysis for the diagnosis of dystonia
van Egmond, Martje E. ; Lugtenberg, Coen H.A. ; Brouwer, Oebele F. ; Contarino, Maria Fiorella ; Fung, Victor S.C. ; Heiner-Fokkema, M. Rebecca ; van Hilten, Jacobus J. ; van der Hout, Annemarie H. ; Peall, Kathryn J. and Sinke, Richard J. , et al. (2017) In Movement Disorders 32(4). p.569-575
- Contribution to journal › Article
Mark Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
Nibbeling, Esther A.R. ; Delnooz, Cathérine C.S. ; de Koning, Tom J. ^LU ; Sinke, Richard J. ; Jinnah, Hyder A. ; Tijssen, Marina A.J. and Verbeek, Dineke S. (2017) In Neuroscience and Biobehavioral Reviews 75. p.22-39
- Contribution to journal › Scientific review
Mark GAVIN : Gene-Aware Variant INterpretation for medical sequencing
van der Velde, K. Joeri ; de Boer, Eddy N. ; van Diemen, Cleo C. ; Sikkema-Raddatz, Birgit ; Abbott, Kristin M. ; Knopperts, Alain ; Franke, Lude ; Sijmons, Rolf H. ; de Koning, Tom J. ^LU and Wijmenga, Cisca , et al. (2017) In Genome Biology 18(1).
- Contribution to journal › Article
Mark Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders
Lunsing, Roelineke J. ; Strating, Kim ; de Koning, Tom J. ^LU and Sijens, Paul E. (2017) In European Radiology 27(3). p.976-984
- Contribution to journal › Article
2016
Mark Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency : A perinatal protocol for use before population neonatal screening test results become available
Van Rijt, Willemijn J. ; Jager, Emmalie A. ; Van Spronsen, Francjan J. ; De Koning, Tom ^LU ; Heiner-Fokkema, M. Rebecca and Derks, Terry G.J. (2016) In Genetics in Medicine 18(12). p.1322-1323
- Contribution to journal › Letter
Mark Neurometabolic disorders are treatable causes of dystonia
Kuiper, A. ; Eggink, H. ; Tijssen, M. A.J. and de Koning, T. J. ^LU (2016) In Revue Neurologique 172(8-9). p.455-464
- Contribution to journal › Article
Mark Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
Koens, L. H. ; Kuiper, A. ; Coenen, M. A. ; Elting, J. W.J. ; De Vries, J. J. ; Engelen, M. ; Koelman, J. H.T.M. ; Van Spronsen, F. J. ; Spikman, J. M. and De Koning, T. J. ^LU , et al. (2016) In Orphanet Journal of Rare Diseases 11(1).
- Contribution to journal › Article
Mark Teaching Video Neuro Images : The "round the houses" sign as a clinical clue for Niemann-Pick disease type C
Eggink, Hendriekje ; Brandsma, Rick ; Van Der Hoeven, Johannes H. ; Lange, Fiete ; De Koning, Tom J. ^LU and Tijssen, Marina A.J. (2016) In Neurology 86(19). p.202-202
- Contribution to journal › Debate/Note/Editorial
Mark Polyhydramnios, transient antenatal bartter's syndrome, and MAGED2 mutations
Laghmani, Kamel ; Beck, Bodo B. ; Yang, Sung Sen ; Seaayfan, Elie ; Wenzel, Andrea ; Reusch, Bjorn ; Vitzthum, Helga ; Priem, Dario ; Demaretz, Sylvie and Bergmann, Klasien , et al. (2016) In New England Journal of Medicine 374(19). p.1853-1863
- Contribution to journal › Article
Mark Serotonergic perturbations in dystonia disorders-a systematic review
Smit, M. ; Bartels, A. L. ; van Faassen, M. ; Kuiper, A. ; Niezen-Koning, K. E. ; Kema, I. P. ; Dierckx, R. A. ; de Koning, T. J. ^LU and Tijssen, M. A. (2016) In Neuroscience and Biobehavioral Reviews 65. p.264-275
- Contribution to journal › Scientific review

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