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van der Velde, K Joeri
237  Ergebnisse:
Personensuche X
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1

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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2

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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3

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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4

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/..
 
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5

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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6

Strategies in Rapid Genetic Diagnostics of Critically Ill C..:

Imafidon, Miriam E. ; Sikkema-Raddatz, Birgit ; Abbott, Kristin M....
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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7

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/..
 
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8

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/..
 
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9

A pipeline‐friendly software tool for genome diagnostics to..:

van der Velde, K. Joeri ; van den Hoek, Sander ; van Dijk, Freerk...
Advanced Genetics.  1 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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10

CAPICE: a computational method for Consequence-Agnostic Pat..:

Li, Shuang ; van der Velde, K. Joeri ; de Ridder, Dick...
Genome Medicine.  12 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

WGS-based telomere length analysis in Dutch family trios im..:

Nersisyan, Lilit ; Nikoghosyan, Maria ; Francioli, Laurent C....
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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12

Improving the diagnostic yield of exome- sequencing by pred..:

Deelen, Patrick ; van Dam, Sipko ; Herkert, Johanna C....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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13

MYO5B,STX3, andSTXBP2mutations reveal a common disease mech..:

Dhekne, Herschel S. ; Pylypenko, Olena ; Overeem, Arend W....
Human Mutation.  39 (2018)  3 - p. 333-344 , 2018
Link: https://doi.org/10.1002/..
 
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14

MOLGENIS research: advanced bioinformatics data software fo..:

van der Velde, K Joeri ; Imhann, Floris ; Charbon, Bart...
Bioinformatics.  35 (2018)  6 - p. 1076-1078 , 2018
Link: https://doi.org/10.1093/..
 
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15

No major role for rare plectin variants in arrhythmogenic r..:

Hoorntje, Edgar T. ; Posafalvi, Anna ; Syrris, Petros...
PLOS ONE.  13 (2018)  8 - p. e0203078 , 2018
Link: https://doi.org/10.1371/..
 
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