E-LIB Suche - Ergebnisse für: Dekker, Jordy

1

Biallelic NDC1 variants that interfere with ALADIN binding ..:

Smits, Daphne J. ; Dekker, Jordy ; Douben, Hannie...
Human Genetics and Genomics Advances. , 2024

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

2

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
Brain. 146 (2023) 8 - p. 3528-3541 , 2023

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

3

CLEC16A interacts with retromer and TRIM27, and its loss im..:

Smits, Daphne J. ; Dekker, Jordy ; Schot, Rachel...
Human Genetics. 142 (2022) 3 - p. 379-397 , 2022

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

4

A novel family illustrating the mild phenotypic spectrum of..:

Dekker, Jordy ; Diderich, Karin E.M. ; Schot, Rachel...
European Journal of Paediatric Neurology. 35 (2021) - p. 35-39 , 2021

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

5

Multidisciplinary interaction and MCD gene discovery. The p..:

Mancini, Grazia M.S. ; Smits, Daphne J. ; Dekker, Jordy...
European Journal of Paediatric Neurology. 35 (2021) - p. 27-34 , 2021

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

6

Zebrafish macrophage developmental arrest underlies depleti..:

Kuil, Laura E ; Oosterhof, Nynke ; Ferrero, Giuliano...
eLife. 9 (2020) - p. , 2020

Link: https://doi.org/10.7554/..

7

Efficacy of single and multiple oral doses of fosfomycin ag..:

Peleg, Anton Y ; Mouton, Johan W ; Meletiadis, Joseph...
Journal of Antimicrobial Chemotherapy. 75 (2020) 7 - p. 1879-1888 , 2020

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

8

Impact of bacterial species and baseline resistance on fosf..:

Peleg, Anton Y ; Mouton, Johan W ; Meletiadis, Joseph...
Journal of Antimicrobial Chemotherapy. 75 (2019) 4 - p. 988-996 , 2019

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

9

Web-accessible application for identifying pathogenic trans..:

Dekker, Jordy ; Schot, Rachel ; Bongaerts, Michiel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943747/. , 2023

Link: http://www.ncbi.nlm.nih...

10

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393401/. , 2023

Link: http://www.ncbi.nlm.nih...

11

A novel family illustrating the mild phenotypic spectrum of..:

Dekker, Jordy ; Diderich, Karin E.M ; Schot, Rachel...
Dekker , J , Diderich , K E M , Schot , R , Husen , S C , Dremmen , M H G , Go , A T J I , Weerts , M J A , van Slegtenhorst , M A & Mancini , G M S 2021 , ' A novel family illustrating the mild phenotypic spectrum of TUBB2B variants ' , European Journal of Paediatric Neurology , vol. 35 , pp. 35-39 . https://doi.org/10.1016/j.ejpn.2021.09.007. , 2021

Link: https://pure.eur.nl/en/p..

12

Multidisciplinary interaction and MCD gene discovery. The p..:

Mancini, Grazia M.S ; Smits, Daphne J ; Dekker, Jordy...
Mancini , G M S , Smits , D J , Dekker , J , Schot , R , de Wit , M C Y , Lequin , M H , Dremmen , M , Brooks , A S , van Ham , T , Verheijen , F W , Fornerod , M , Dobyns , W B & Wilke , M 2021 , ' Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist ' , European Journal of Paediatric Neurology , vol. 35 , pp. 27-34 . https://doi.org/10.1016/j.ejpn.2021.09.006. , 2021

Link: https://pure.eur.nl/en/p..

13

Zebrafish macrophage developmental arrest underlies depleti..:

Kuil, Laura E ; Oosterhof, Nynke ; Ferrero, Giuliano...
uri/info:doi/10.7554/eLife.53403. , 2020

Link: http://hdl.handle.net/20..

14

Zebrafish macrophage developmental arrest underlies depleti..:

Kuil, Laura ; Oosterhof, Nynke ; Ferrero, G...
Kuil , L , Oosterhof , N , Ferrero , G , Mikulasova , T , Hason , M , Dekker , J , Rovira , M , Zondervan - van der Linde , H , Strien , P , De Pater , E , Schaaf , G , Bindels , E , Wittamerz , V & van Ham , T 2020 , ' Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes ' , eLife , vol. 9 , e53403 . https://doi.org/10.7554/eLife.53403. , 2020

Link: https://pure.eur.nl/en/p..

15

Zebrafish macrophage developmental arrest underlies depleti..:

Kuil, L.E. (Laura) ; Oosterhof, N. (Nynke) ; Ferrero, G. (Giuliano)...
http://repub.eur.nl/pub/127407. , 2020

Link: http://repub.eur.nl/pub/..