Tom J de Koning

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2021
Mark Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care : Cohort Study of Returning UK Biobank Participants
Castela Forte, José ; Folkertsma, Pytrik ; Gannamani, Rahul ; Kumaraswamy, Sridhar ; Mount, Sarah ; de Koning, Tom J ^LU ; van Dam, Sipko and Wolffenbuttel, Bruce H R (2021) In Journal of Personalized Medicine 11(12).
- Contribution to journal › Article
Mark Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
Gannamani, Rahul ; van der Veen, Sterre ; van Egmond, Martje ; de Koning, Tom J ^LU and Tijssen, Marina A J (2021) In Movement Disorders Clinical Practice 8(3). p.311-321
- Contribution to journal › Scientific review
Mark Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
van Verseveld, M ; Koens, L H ; de Koning, Tom J ^LU ; Derikx, R L E and van Waarde, J A (2021) In Frontiers in Psychiatry 12. p.1-4
- Contribution to journal › Article
Mark Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, Elena ; Chakrabarty, Sanjiban ; Kellaris, Georgios ; Tsutsumi, Makiko ; Bianco, Francesca ; Bergamini, Christian ; Ullah, Farid ; Isidori, Federica ; Liparulo, Irene and Diquigiovanni, Chiara , et al. (2021) In Brain : a journal of neurology 144(5). p.1451-1466
- Contribution to journal › Article
Mark Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
Timmers, Elze R. ; van Faassen, Martijn ; Smit, Marenka ; Kuiper, Anouk ; Hof, Ingrid H. ; Kema, Ido P. ; Tijssen, Marina A.J. ; Niezen-Koning, Klary E. and de Koning, Tom J. ^LU (2021) In Parkinsonism and Related Disorders 91. p.48-54
- Contribution to journal › Article
Mark The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
Mainka, Tina ; Fischer, Jan Frederik ; Huebl, Julius ; Jung, Alexandra ; Lier, Dinah ; Mosejova, Alexandra ; Skorvanek, Matej ; de Koning, Tom J. ^LU ; Kühn, Andrea A. and Freisinger, Peter , et al. (2021) In Parkinsonism and Related Disorders 89. p.167-175
- Contribution to journal › Article
Mark Treatment of ARS deficiencies with specific amino acids
Kok, Gautam ; Tseng, Laura ; Schene, Imre F. ; Dijsselhof, Monique E. ; Salomons, Gajja ; Mendes, Marisa I. ; Smith, Desiree E.C. ; Wiedemann, Arnaud ; Canton, Marie and Feillet, François , et al. (2021) In Genetics in Medicine 23(11). p.2202-2207
- Contribution to journal › Article
2020
Mark A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
Polet, Sjoukje S. ; Anderson, David G. ; Koens, Lisette H. ; van Egmond, Martje E. ; Drost, Gea ; Brusse, Esther ; Willemsen, Michèl AAP ; Sival, Deborah A. ; Brouwer, Oebele F. and Kremer, Hubertus PH , et al. (2020) In Parkinsonism and Related Disorders 72. p.44-48
- Contribution to journal › Article
Mark De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
Wijnen, Iris G.M. ; Veenstra-Knol, Hermine E. ; Vansenne, Fleur ; Gerkes, Erica H. ; de Koning, Tom ^LU ; Vos, Yvonne J. ; Tijssen, Marina A.J. ; Sival, Deborah ; Darin, Niklas and Vanhoutte, Els K. , et al. (2020) In European Journal of Human Genetics 28(6). p.763-769
- Contribution to journal › Article
Mark The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
Mainka, Tina ; Ziagaki, Athanasia ; de Koning, Tom J. ^LU ; Kühn, Andrea A. and Ganos, Christos (2020) In Movement Disorders Clinical Practice 7(8). p.1004-1006
- Contribution to journal › Letter

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