E-LIB Suche - Ergebnisse für: van Gijn, Marielle E

1

Serum proteomics reveals hemophagocytic lymphohistiocytosis..:

Tulling, Adam J. ; Holierhoek, Marloes G. ; Jansen-Hoogendijk, Anja M....
Clinical Immunology. 264 (2024) - p. 110252 , 2024

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

2

Systematic reanalysis of genomic data by diagnostic laborat..:

van der Geest, Marije A. ; Maeckelberghe, Els L. M. ; van Gijn, Marielle E....
European Journal of Human Genetics. 32 (2024) 5 - p. 489-497 , 2024

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

3

Dysregulation of miRNA-30e-3p targeting IL-1β in an interna..:

Akbaba, Tayfun Hilmi ; Akkaya-Ulum, Yeliz Z. ; Batu, Ezgi Deniz...
Journal of Molecular Medicine. 101 (2023) 6 - p. 757-766 , 2023

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

4

Clinical Symptoms, Laboratory Parameters and Long-Term Foll..:

Andriessen, Marie Valérie E. ; Legger, G. Elizabeth ; Bredius, Robbert G. M....
Journal of Clinical Immunology. 43 (2023) 7 - p. 1581-1596 , 2023

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

5

Enhanced hepatic clearance of hyposialylated platelets expl..:

Noordermeer, Tessa ; van Asten, Ivar ; Schutgens, Roger E. G....
Blood Advances. 6 (2022) 11 - p. 3347-3351 , 2022

Link: https://doi.org/10.1182/..

6

Adult-onset autoinflammation caused by somatic mutations in..:

van der Made, Caspar I. ; Potjewijd, Judith ; Hoogstins, Annemiek...
Journal of Allergy and Clinical Immunology. 149 (2022) 1 - p. 432-439.e4 , 2022

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

7

FAIR Genomes metadata schema promoting Next Generation Sequ..:

van der Velde, K. Joeri ; Singh, Gurnoor ; Kaliyaperumal, Rajaram...
Scientific Data. 9 (2022) 1 - p. , 2022

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

8

Implementation of Early Next-Generation Sequencing for Inbo..:

Elsink, Kim ; Huibers, Manon M. H. ; Hollink, Iris H. I. M....
Frontiers in Immunology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

Diagnostisches Next Generation Sequencing bei neonataler Er..:

Cuperus, Edwin ; Sigurdsson, Vigfús ; van den Akker, Peter C....
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 19 (2021) 4 - p. 611-614 , 2021

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

10

Feasibility of predicting allele specific expression from D..:

Zhang, Zhenhua ; van Dijk, Freerk ; de Klein, Niek...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

11

Collodion babies: A 15-year retrospective multicenter study..:

Cuperus, Edwin ; Bolling, Marieke C. ; de Graaf, Marlies...
Journal of the American Academy of Dermatology. 84 (2021) 4 - p. 1111-1113 , 2021

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

12

Cost and impact of early diagnosis in primary immunodeficie..:

Elsink, Kim ; van Montfrans, Joris M. ; van Gijn, Mariëlle E....
Clinical Immunology. 213 (2020) - p. 108359 , 2020

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

13

Diagnostic next generation sequencing in neonatal erythrode..:

Cuperus, Edwin ; Sigurdsson, Vigfús ; van den Akker, Peter C....
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 19 (2020) 4 - p. 612-614 , 2020

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

14

Parents' Perspectives and Societal Acceptance of Implementa..:

Blom, Maartje ; Bredius, Robbert G. M. ; Jansen, Marleen E....
Journal of Clinical Immunology. 41 (2020) 1 - p. 99-108 , 2020

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

15

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagno..:

Touitou, Isabelle ; van Gijn, Marielle E ; Zonneveld-Huijssoon, Evelien...
Clinical Chemistry. 66 (2020) 4 - p. 525-536 , 2020

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