E-LIB Suche - Ergebnisse für: van Karnebeek, Clara D

1

Extending diagnostic practices in gyrate atrophy: Enzymatic..:

Balfoort, Berith M. ; Pampalone, Gioena ; Ruiter, Jos P.N....
Molecular Genetics and Metabolism. 143 (2024) 1-2 - p. 108542 , 2024

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

2

A cohort study of 19 patients with gyrate atrophy of the ch..:

Balfoort, Berith M. ; Van Den Broeck, Filip ; Brands, Marion M....
Graefe's Archive for Clinical and Experimental Ophthalmology. , 2024

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

3

Corrigendum to "Effectiveness of L-serine supplementation i..:

Hollander, Bibiche den ; Rothuizen-Lindenschot, Marieke ; Geertjens, Lisa...
Contemporary Clinical Trials Communications. 38 (2024) - p. 101264 , 2024

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

4

Designing eHealth interventions for children with complex c..:

van de Riet, Liz ; Aris, Anna M. ; Verouden, Nick W....
PEC Innovation. 4 (2024) - p. 100280 , 2024

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

5

Real-world diagnostic outcomes and cost-effectiveness of ge..:

Regier, Dean A. ; Loewen, Rosalie ; Chan, Brandon...
Genetics in Medicine. 26 (2024) 4 - p. 101069 , 2024

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

6

Should secondary pharmacogenomic variants be actively scree..:

Friedman, Jan M. ; Bombard, Yvonne ; Carleton, Bruce...
Genetics in Medicine. 26 (2024) 2 - p. 101033 , 2024

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

7

Effectiveness of L-serine supplementation in children with ..:

den Hollander, Bibiche ; Rothuizen-Lindenschot, Marieke ; Geertjens, Lisa...
Contemporary Clinical Trials Communications. 36 (2023) - p. 101233 , 2023

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

8

Hospital-to-home transitions for children with medical comp..:

Haspels, Heleen N. ; de Lange, Annemieke A. ; Alsem, Mattijs W....
European Journal of Pediatrics. 182 (2023) 9 - p. 3833-3843 , 2023

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

9

Viral, Bacterial, Metabolic, and Autoimmune Causes of Sever..:

Edridge, Arthur ; Namazzi, Ruth ; Tebulo, Andrew...
The Journal of Pediatrics. 258 (2023) - p. 113360 , 2023

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

10

Genetics and Genomics of Cerebral Palsy:

, In: Neurodevelopmental Pediatrics,

Friedman, Jan ; van Karnebeek, Clara - p. 547-568 , 2023

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

11

Integrated omics analyses clarifies ATRX copy number varian..:

Marshall, Aren E. ; Liang, Yijing ; Couse, Madeline...
Journal of Human Genetics. 69 (2023) 2 - p. 101-105 , 2023

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

12

Outcome of over 1500 matches through the Matchmaker Exchang..:

Osmond, Matthew ; Hartley, Taila ; Dyment, David A....
Genetics in Medicine. 24 (2022) 1 - p. 100-108 , 2022

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

13

ZBTB11 dysfunction: spectrum of brain abnormalities, bioche..:

Sumathipala, Dulika ; Strømme, Petter ; Fattahi, Zohreh...
Brain. 145 (2022) 7 - p. 2602-2616 , 2022

Link: https://doi.org/10.1093/..

14

Clinico‐radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B. ; Kaya, Namik...
Human Mutation. 43 (2022) 3 - p. 403-419 , 2022

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

15

Long Stay and Frequent Readmission in the Pediatric Intensi..:

van de Riet, Liz ; Otten, Marieke H. ; van Karnebeek, Clara D...
Critical Care Explorations. 4 (2022) 12 - p. e0798 , 2022

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