E-LIB Suche - Ergebnisse für: Wevers, R.A

1

The clinical relevance of novel biomarkers as outcome param..:

van Wegberg, A. M. J. ; van der Weerd, J. C. ; Engelke, U. F. H....
Journal of Inherited Metabolic Disease. 47 (2024) 4 - p. 624-635 , 2024

Link: https://doi.org/10.1002/..

2

Cerebrotendinous xanthomatosis without neurological involve..:

Stelten, B. M. L. ; Raal, F. J. ; Marais, A. D....
Journal of Internal Medicine. 290 (2021) 5 - p. 1039-1047 , 2021

Link: https://doi.org/10.1111/..

3

Functional disruption of pyrimidine nucleoside transporter ..:

Wevers, R. A. ; Christensen, M. ; Engelke, U. F. H....
Journal of Inherited Metabolic Disease. 42 (2019) 3 - p. 494-500 , 2019

Link: https://doi.org/10.1002/..

4

Corrigendum to "A homozygous DPM3 mutation in a patient wit..:

Van den Bergh, P.Y.K. ; Sznajer, Y. ; Van Parys, V....
Neuromuscular Disorders. 28 (2018) 1 - p. 101 , 2018

Link: https://doi.org/10.1016/..

5

Sparse statistical health monitoring: A novel variable sele..:

Engel, J. ; Blanchet, L. ; Engelke, U.F.H...
Chemometrics and Intelligent Laboratory Systems. 164 (2017) - p. 83-93 , 2017

Link: https://doi.org/10.1016/..

6

A homozygous DPM3 mutation in a patient with alpha-dystrogl..:

Van den Bergh, P.Y.K. ; Sznajer, Y. ; Van Parys, V....
Neuromuscular Disorders. 27 (2017) 11 - p. 1043-1046 , 2017

Link: https://doi.org/10.1016/..

7

Broadening the genetic spectrum of "early-onset dementia pl..:

Dragoumi, P. ; Vargiami, E. ; Kyriazi, M....
European Journal of Paediatric Neurology. 21 (2017) - p. e136-e137 , 2017

Link: https://doi.org/10.1016/..

8

A homozygous DPM3 mutation in a patient with alpha-dystrogl..:

Van den Bergh, P. ; Sznajer, Y. ; Van Parijs, V....
Neuromuscular Disorders. 26 (2016) - p. S165-S166 , 2016

Link: https://doi.org/10.1016/..

9

Genotype-Specific Differences in the Tumor Metabolite Profi..:

Rao, J. U. ; Engelke, U. F. H. ; Sweep, F. C. G. J....
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 2 - p. E214-E222 , 2015

Link: https://doi.org/10.1210/..

10

Regularized MANOVA (rMANOVA) in untargeted metabolomics:

Engel, J. ; Blanchet, L. ; Bloemen, B....
Analytica Chimica Acta. 899 (2015) - p. 1-12 , 2015

Link: https://doi.org/10.1016/..

11

Genetic defects in protein glycosylation as a cause of dysl..:

van den Boogert, M.A.W. ; Kuil, S.D. ; Hovingh, G.K....
Atherosclerosis. 235 (2014) 2 - p. e18 , 2014

Link: https://doi.org/10.1016/..

12

Alpha-fetoprotein, a fascinating protein and biomarker in n..:

Schieving, J.H. ; de Vries, M. ; van Vugt, J.M.G....
European Journal of Paediatric Neurology. 18 (2014) 3 - p. 243-248 , 2014

Link: https://doi.org/10.1016/..

13

Early life adversity and serotonin transporter gene variati..:

van der Doelen, R H A ; Deschamps, W ; D'Annibale, C...
Translational Psychiatry. 4 (2014) 7 - p. e409-e409 , 2014

Link: https://doi.org/10.1038/..

14

O19 – 1664 Succinyl-CoA ligase deficiency: report on the fi..:

Zafeiriou, DI ; Batzios, S ; Vargiami, E...
European Journal of Paediatric Neurology. 17 (2013) - p. S6-S7 , 2013

Link: https://doi.org/10.1016/..

15

Thrombotic complications in patients with PMM2-CDG:

Linssen, M. ; Mohamed, M. ; Wevers, R.A...
Molecular Genetics and Metabolism. 109 (2013) 1 - p. 107-111 , 2013

Link: https://doi.org/10.1016/..