E-LIB Suche - Ergebnisse für: Ruijter, George J. G.

1

Bi-allelic NIT1 variants cause a brain small vessel disease..:

Rutten, Julie W. ; Cerfontaine, Minne N. ; Dijkstra, Kyra L....
Genetics in Medicine. 26 (2024) 6 - p. 101105 , 2024

2

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype..:

de Bruyn, Daniël P. ; Bongaerts, Michiel ; Bonte, Ramon...
International Journal of Molecular Sciences. 24 (2023) 6 - p. 5077 , 2023

Link: https://doi.org/10.3390/..

3

Analysis of urinary oligosaccharide excretion patterns by U..:

Hagemeijer, Marne C. ; van den Bosch, Jeroen C. ; Bongaerts, Michiel...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 206-219 , 2023

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

4

GAA variants associated with reduced enzymatic activity but..:

Malekkou, Anna ; Theodosiou, Athina ; Alexandrou, Angelos...
Molecular Genetics and Metabolism Reports. 36 (2023) - p. 100997 , 2023

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

5

Tagged IDS causes efficient and engraftment-independent pre..:

Catalano, Fabio ; Vlaar, Eva C. ; Katsavelis, Drosos...
Molecular Therapy - Methods & Clinical Development. 31 (2023) - p. 101149 , 2023

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

6

Benchmarking Outlier Detection Methods for Detecting IEM Pa..:

Bongaerts, Michiel ; Kulkarni, Purva ; Zammit, Alan...
Metabolites. 13 (2023) 1 - p. 97 , 2023

Link: https://doi.org/10.3390/..

7

Gastrointestinal Biomarkers and Their Association with Feed..:

Veldscholte, Karlien ; Hulst, Jessie M. ; Eveleens, Renate D....
Journal of Pediatric Gastroenterology & Nutrition. 77 (2023) 6 - p. 811-818 , 2023

Link: https://doi.org/10.1097/..

8

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
Acta Neuropathologica. 146 (2023) 2 - p. 353-368 , 2023

Link: https://doi.org/10.1007/..

9

The role of ERNDIM diagnostic proficiency schemes in improv..:

Mathis, Déborah ; Croft, Joanne ; Chrastina, Petr...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 926-936 , 2022

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

10

Technical Aspects of Coenzyme Q10 Analysis: Validation of a..:

Paredes-Fuentes, Abraham J. ; Oliva, Clara ; Montero, Raquel...
Antioxidants. 11 (2022) 3 - p. 528 , 2022

Link: https://doi.org/10.3390/..

11

Integration of metabolomics with genomics: Metabolic gene p..:

Bongaerts, Michiel ; Bonte, Ramon ; Demirdas, Serwet...
Molecular Genetics and Metabolism. 136 (2022) 3 - p. 199-218 , 2022

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

12

Hip disease in Mucopolysaccharidoses and Mucolipidoses: A r..:

Oussoren, Esmee ; Wagenmakers, Margreet A.E.M. ; Link, Bianca...
Bone. 143 (2021) - p. 115729 , 2021

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

13

Associations of maternal and infant metabolite profiles wit..:

Voerman, Ellis ; Jaddoe, Vincent W. V. ; Shokry, Engy...
Pediatric Obesity. 17 (2021) 2 - p. , 2021

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

14

AbnormalVLCADDnewborn screening resemblingMADDin four neona..:

Hagemeijer, Marne C. ; Oussoren, Esmee ; Ruijter, George J. G....
JIMD Reports. 61 (2021) 1 - p. 12-18 , 2021

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

15

Maternal Body Mass Index, Early-Pregnancy Metabolite Profil..:

Wahab, Rama J ; Jaddoe, Vincent W V ; Voerman, Ellis...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 1 - p. e315-e327 , 2021

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