E-LIB Suche - Ergebnisse für: Beijer, Steven

1

A recurrent missense variant in ITPR3 causes demyelinating ..:

Beijer, Danique ; Dohrn, Maike F ; Rebelo, Adriana...
Brain. , 2024

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

2

Organic contaminants in bio-based fertilizer treated soil: ..:

Das, Supta ; Helmus, Rick ; Dong, Yan...
Chemosphere. 337 (2023) - p. 139261 , 2023

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

3

A Low or High Physical Activity Level Does Not Modulate Pro..:

HOUBEN, LISANNE H. P. ; TUYTTEN, TOM ; HOLWERDA, ANDREW M....
Medicine & Science in Sports & Exercise. 56 (2023) 4 - p. 635-643 , 2023

Link: https://doi.org/10.1249/..

4

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

Link: http://orbilu.uni.lu/han..

5

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5. , 2023

Link: http://orbilu.uni.lu/han..

6

Safe and sustainable by design: A computer-based approach t..:

van Dijk, Joanke ; Flerlage, Hannah ; Beijer, Steven..
Chemosphere. 296 (2022) - p. 134050 , 2022

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

7

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
European Journal of Neurology. 30 (2022) 2 - p. 511-526 , 2022

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

8

Safe and sustainable by design: A computer-based approach t..:

Dijk, Joanke van ; Flerlage, Hannah ; Beijer, Steven..
0045-6535. , 2022

Link: https://dspace.library.u..

9

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Silvia Cipriani ; Marta Guerrero-Valero ; Stefano Tozza...
info:eu-repo/semantics/altIdentifier/pmid/36260368. , 2022

Link: https://hdl.handle.net/2..

10

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099703/. , 2022

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

11

Characterization of HNRNPA1 mutations defines diversity in ..:

Beijer, Danique ; Kim, Hong Joo ; Guo, Lin...
JCI Insight. 6 (2021) 14 - p. , 2021

Link: https://doi.org/10.1172/..

12

Phosphorus recovery and recycling – closing the loop:

Jupp, Andrew R. ; Beijer, Steven ; Narain, Ganesha C...
Chemical Society Reviews. 50 (2021) 1 - p. 87-101 , 2021

Link: https://doi.org/10.1039/..

13

Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, Ana ; Pyle, Angela ; Griffin, Helen...
European Journal of Human Genetics. 29 (2021) 9 - p. 1348-1353 , 2021

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

14

Solving patients with rare diseases through programmatic re..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
http://shura.shu.ac.uk/29063/. , 2021

Link: https://shura.shu.ac.uk/..

15

Characterization of HNRNPA1 mutations defines diversity in ..:

Beijer, Danique ; Kim, Hong Joo ; Guo, Lin...
https://jdc.jefferson.edu/bmpfp/188. , 2021

Link: https://jdc.jefferson.ed..