E-LIB Suche - Ergebnisse für: van der Velde, Joeri K

1

Correction to: Solving patients with rare diseases through ..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
European Journal of Human Genetics. 29 (2021) 9 - p. 1466-1469 , 2021

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

2

A MT-TL1 variant identified by whole exome sequencing in an..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics. 29 (2021) 9 - p. 1359-1368 , 2021

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

3

Correction: A MT-TL1 variant identified by whole exome sequ..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics. 29 (2021) 9 - p. 1470-1471 , 2021

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

4

Solving patients with rare diseases through programmatic re..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
European Journal of Human Genetics. 29 (2021) 9 - p. 1337-1347 , 2021

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

5

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/..

6

SORTA: a system for ontology-based re-coding and technical ..:

Pang, Chao ; Sollie, Annet ; Sijtsma, Anna...
Database. 2015 (2015) - p. bav089 , 2015

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

7

Pheno2Geno - High-throughput generation of genetic markers ..:

Zych, Konrad ; Li, Yang ; van der Velde, Joeri K...
BMC Bioinformatics. 16 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

8

The MOLGENIS toolkit: rapid prototyping of biosoftware at t..:

Swertz, Morris A ; Dijkstra, Martijn ; Adamusiak, Tomasz...
BMC Bioinformatics. 11 (2010) S12 - p. , 2010

Link: https://doi.org/10.1186/..

9

A Resource for Guiding Data Stewards to Make European Rare ..:

van Damme, Philip ; Moreno, Pablo Alarcón ; Bernabé, César H....
Data Science Journal. 22 (2023) - p. , 2023

Link: https://doi.org/10.5334/..

10

Ten quick tips for building FAIR workflows:

de Visser, Casper ; Johansson, Lennart F. ; Kulkarni, Purva...
PLOS Computational Biology. 19 (2023) 9 - p. e1011369 , 2023

Link: https://doi.org/10.1371/..

11

Semantic modelling of common data elements for rare disease..:

Kaliyaperumal, Rajaram ; Wilkinson, Mark D. ; Moreno, Pablo Alarcón...
Journal of Biomedical Semantics. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

12

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/..

13

Validation of New Gene Variant Classification Methods: a Fi..:

Alimohamed, Mohamed Z. ; Westers, Helga ; Vos, Yvonne J....
Frontiers in Genetics. 13 (2022) - p. , 2022

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

14

Towards FAIRification of sensitive and fragmented rare dise..:

dos Santos Vieira, Bruna ; Bernabé, César H. ; Zhang, Shuxin...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

15

People's information Universe:

, In: Powers of Two,

Valentijn, Edwin A. ; Lineweaver, Charles H. ; van der Velde, K. Joeri... - p. 23-106 , 2021

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