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Velde, Joeri van der
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1

Curation and expansion of the Human Phenotype Ontology for ..:

Maassen, Willem ; Legger, Geertje ; Kul Cinar, Ovgu...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

Implementing Individually Tailored Prescription of Physical..:

Krops, Leonie A ; Bouma, Adrie J ; Van Nassau, Femke...
JMIR Research Protocols.  9 (2020)  11 - p. e19397 , 2020
Link: https://doi.org/10.2196/..
 
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3

Modifiers of mutant huntingtin aggregationfunctional conser..:

Teuling, Eva ; Bourgonje, Annika ; Veenje, Sven...
PLoS Currents.  3 (2011)  - p. RRN1255 , 2011
Link: https://doi.org/10.1371/..
 
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4

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/..
 
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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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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