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2017
Mark The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
Van Egmond, Martje E. ; Weijenberg, Amerins ; Van Rijn, Margreet E. ; Elting, Jan Willem J. ; Gelauff, Jeannette M. ; Zutt, Rodi ; Sival, Deborah A. ; Lambrechts, Roald A. ; Tijssen, Marina A.J. and Brouwer, Oebele F. , et al. (2017) In Orphanet Journal of Rare Diseases 12(1).
- Contribution to journal › Article
Mark The hidden Niemann-Pick type C patient : clinical niches for a rare inherited metabolic disease
Hendriksz, Christian J. ; Anheim, Mathieu ; Bauer, Peter ; Bonnot, Olivier ; Chakrapani, Anupam ; Corvol, Jean Christophe ; de Koning, Tom J. ^LU ; Degtyareva, Anna ; Dionisi-Vici, Carlo and Doss, Sarah , et al. (2017) In Current Medical Research and Opinion 33(5). p.877-890
- Contribution to journal › Article
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
Mark Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation
Eggink, Hendriekje ; van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Schönherr, Marleen C. ; de Koning, Tom J. ^LU ; Oterdoom, D. L.Marinus ; van Dijk, J. Marc C. and Tijssen, Marina A.J. (2017) In Movement Disorders 32(1). p.162-165
- Contribution to journal › Debate/Note/Editorial
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

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