Tom J de Koning

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2015
Mark Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
De Koning, Tom J. ^LU ; Jongbloed, Jan D.H. ; Sikkema-Raddatz, Birgit and Sinke, Richard J. (2015) In Expert Review of Molecular Diagnostics 15(1). p.61-70
- 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 Non-motor symptoms in genetically defined dystonia : Homogenous groups require systematic assessment
Peall, K. J. ; Kuiper, A. ; de Koning, T. J. ^LU and Tijssen, M. A.J. (2015) In Parkinsonism and Related Disorders 21(9). p.1031-1040
- Contribution to journal › Scientific review
Mark Dystonia in children and adolescents : A systematic review and a new diagnostic algorithm
Van Egmond, Martje E. ; Kuiper, Anouk ; Eggink, Hendriekje ; Sinke, Richard J. ; Brouwer, Oebele F. ; Verschuuren-Bemelmans, Corien C. ; Sival, Deborah A. ; Tijssen, Marina A.J. and De Koning, Tom J. ^LU (2015) In Journal of Neurology, Neurosurgery and Psychiatry 86(7). p.774-781
- Contribution to journal › Scientific review
2014
Mark Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
Eggink, Hendriekje ; Kuiper, Anouk ; Peall, Kathryn J. ; Contarino, Maria Fiorella ; Bosch, Annet M. ; Post, Bart ; Sival, Deborah A. ; Tijssen, Marina A.J. and de Koning, Tom J. ^LU (2014) In Orphanet Journal of Rare Diseases 9.
- Contribution to journal › Article
Mark Serine synthesis disorders
Jaeken, Jaak and de Koning, Tom ^LU (2014) p.123-131
- Chapter in Book/Report/Conference proceeding › Book chapter
Mark Assessment of speech in early-onset ataxia : A pilot study
Kuiper, Marieke J. ; Brandsma, Rick ; Lawerman, Tjitske F. ; Lunsing, Roelineke J. ; Keegstra, Anne L. ; Burger, Huibert ; De Koning, Tom J. ^LU ; Tijssen, Marina A.J. and Sival, Deborah A. (2014) In Developmental Medicine and Child Neurology 56(12). p.1202-1206
- Contribution to journal › Article
Mark Periodic fever in MVK deficiency : A patient initially diagnosed with incomplete Kawasaki disease
Thors, Valtyr S. ; Vastert, Sebastiaan J. ; Wulffraat, Nico ; Van Royen, Annet ; Frenkel, Joost ; De Sain-Van Der Velden, Monique and De Koning, Tom J. ^LU (2014) In Pediatrics 133(2).
- Contribution to journal › Article
Mark Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Nibbeling, Esther A. ; Elting, Jan Willem J. ; Sival, Deborah A. ; Brouwer, Oebele F. ; de Vries, Jeroen J. ; Kremer, Hubertus P. ; Sinke, Richard J. and Tijssen, Marina A. , et al. (2014) In Movement Disorders 29(1). p.139-143
- Contribution to journal › Article
Mark Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
Bendadi, Fatiha ; De Koning, Tom J. ^LU ; Visser, Gepke ; Prinsen, Hubertus C.M.T. ; De Sain, Monique G.M. ; Verhoeven-Duif, Nanda ; Sinnema, Gerben ; Van Spronsen, Francjan J. and Van Hasselt, Peter M. (2014) In Journal of Pediatrics 164(2). p.398-401
- Contribution to journal › Article

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