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2016
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
Mark Patience is the key : Contraceptive induced chorea in a girl with Down Syndrome
Eggink, Hendriekje ; Kuiper, Anouk ; Delnooz, Cathérine C.S. ; Sival, Deborah A. ; De Koning, Tom J. ^LU and Tijssen, Marina A.J. (2016) In European Journal of Paediatric Neurology 20(4). p.671-673
- Contribution to journal › Article
Mark Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes
Van Rijt, Willemijn J. ; Koolhaas, Geneviève D. ; Bekhof, Jolita ; Heiner Fokkema, M. Rebecca ; De Koning, Tom J. ^LU ; Visser, Gepke ; Schielen, Peter C.J.I. ; Van Spronsen, Francjan J. and Derks, Terry G.J. (2016) In Neonatology 109(4). p.297-302
- Contribution to journal › Scientific review
Mark Reliability of phenotypic early-onset ataxia assessment : A pilot study
Lawerman, Tjitske F. ; Brandsma, Rick ; van Geffen, Joke T. ; Lunsing, Roelineke J. ; Burger, Huibert ; Tijssen, Marina A.J. ; de Vries, Jeroen J. ; de Koning, Tom J. ^LU and Sival, Deborah A. (2016) In Developmental Medicine and Child Neurology 58(1). p.70-76
- Contribution to journal › Article
2015
Mark Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea
van Egmond, Martje E. ; Kuiper, Anouk ; Elting, Jan Willem J. ; Brouwer, Oebele F. ; de Koning, Tom J. ^LU and Tijssen, Marina A.J. (2015) In Movement Disorders Clinical Practice 2(1). p.61-63
- Contribution to journal › Article
Mark Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
De Koning, Tom J. ^LU and Tijssen, Marina A.J. (2015) In Nature Reviews Gastroenterology and Hepatology 11. p.78-79
- Contribution to journal › Scientific review
Mark Myoclonus in childhood-onset neurogenetic disorders : The importance of early identification and treatment
Van Egmond, Martje E. ; Elting, Jan Willem J. ; Kuiper, Anouk ; Zutt, Rodi ; Heineman, Kirsten R. ; Brouwer, Oebele F. ; Sival, Deborah A. ; Willemsen, Michel A. ; Tijssen, Marina A.J. and De Koning, Tom J. ^LU (2015) In European Journal of Paediatric Neurology 19(6). p.726-729
- Contribution to journal › Article
Mark Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
Heywood, Wendy E. ; Camuzeaux, Stephane ; Doykov, Ivan ; Patel, Nina ; Preece, Rhian Lauren ; Footitt, Emma ; Cleary, Maureen ; Clayton, Peter ; Grunewald, Stephanie and Abulhoul, Lara , et al. (2015) In Analytical Chemistry 87(24). p.12238-12244
- Contribution to journal › Article

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