van der Velde, Joeri K : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (20)
Les plus populaires
Liste
- Liste
- Tableau

1

An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

van der Velde, K. Joeri, Dhekne, Herschel S., Swertz, Morris A., Sirigu, Serena, Ropars, Virginie, Vinke, Petra C., Rengaw, Trebor, van den Akker, Peter C., Rings, Edmond H. H. M., Houdusse, Anne, van

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 529 KB

english, 2013

2

MYO5B , STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

Dhekne, Herschel S., Pylypenko, Olena, Overeem, Arend W., Ferreira, Rosaria J., van der Velde, K. Joeri, Rings, Edmond H.H.M., Posovszky, Carsten, Swertz, Morris A., Houdusse, Anne, van IJzendoorn, Sv

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 2.01 MB

english, 2017

3

OntoCAT -- simple ontology search and integration in Java, R and REST/JavaScript

Tomasz Adamusiak, Tony Burdett, Natalja Kurbatova, K Joeri van der Velde, Niran Abeygunawardena, Despoina Antonakaki, Misha Kapushesky, Helen Parkinson, Morris A Swertz

Journal:

BMC Bioinformatics

Année:

2011

Langue:

english

Fichier:

PDF, 496 KB

english, 2011

4

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

Tomasz Adamusiak, Helen Parkinson, Juha Muilu, Erik Roos, Kasper Joeri van der Velde, Gudmundur A. Thorisson, Myles Byrne, Chao Pang, Sirisha Gollapudi, Vincent Ferretti, Hans Hillege, Anthony J. Broo

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 329 KB

english, 2012

5

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

Morris A Swertz, Martijn Dijkstra, Tomasz Adamusiak, Joeri K van der Velde, Alexandros Kanterakis, Erik T Roos, Joris Lops, Gudmundur A Thorisson, Danny Arends, George Byelas, Juha Muilu, Anthony J Br

Journal:

BMC Bioinformatics

Année:

2010

Langue:

english

Fichier:

PDF, 1.83 MB

english, 2010

6

XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments

Morris A Swertz, van der K Joeri Velde, Bruno M Tesson…

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 2.09 MB

english, 2010

7

Worm variation made accessible

Snoek, L Basten, Joeri van der Velde, K, Li, Yang, Jansen, Ritsert C, Swertz, Morris A, Kammenga, Jan E

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 470 KB

english, 2014

8

Pheno2Geno - High-throughput generation of genetic markers and maps from molecular phenotypes for crosses between inbred strains

Zych, Konrad, Li, Yang, van der Velde, Joeri K, Joosen, Ronny VL, Ligterink, Wilco, Jansen, Ritsert C, Arends, Danny

Journal:

BMC Bioinformatics

Année:

2015

Langue:

english

Fichier:

PDF, 764 KB

english, 2015

9

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John-Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 430 KB

english, 2015

10

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

Deelen, Patrick, Zhernakova, Daria V, de Haan, Mark, van der Sijde, Marijke, Bonder, Marc Jan, Karjalainen, Juha, van der Velde, K Joeri, Abbott, Kristin M, Fu, Jingyuan, Wijmenga, Cisca, Sinke, Richa

Journal:

Genome Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 4.99 MB

english, 2015

11

MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks

Pang, Chao, van Enckevort, David, de Haan, Mark, Kelpin, Fleur, Jetten, Jonathan, Hendriksen, Dennis, de Boer, Tommy, Charbon, Bart, Winder, Erwin, van der Velde, K. Joeri, Doiron, Dany, Fortier, Isab

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 568 KB

english, 2016

12

SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

Pang, Chao, Sollie, Annet, Sijtsma, Anna, Hendriksen, Dennis, Charbon, Bart, de Haan, Mark, de Boer, Tommy, Kelpin, Fleur, Jetten, Jonathan, van der Velde, Joeri K., Smidt, Nynke, Sijmons, Rolf, Hille

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 801 KB

english, 2015

13

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

van der Velde, K. Joeri, de Boer, Eddy N., van Diemen, Cleo C., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Knopperts, Alain, Franke, Lude, Sijmons, Rolf H., de Koning, Tom J., Wijmenga, Cisca, Sinke

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2017

14

MOLGENIS/OMX for multi-omics and personalized medicine

Morris Swertz,K. Joeri van der Velde

Journal:

Journal of Clinical Bioinformatics

Année:

2015

Langue:

english

Fichier:

PDF, 398 KB

english, 2015

15

MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians

van der Velde, K Joeri, Imhann, Floris, Charbon, Bart, Pang, Chao, van Enckevort, David, Slofstra, Mariska, Barbieri, Ruggero, Alberts, Rudi, Hendriksen, Dennis, Kelpin, Fleur, de Haan, Mark, de Boer,

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 717 KB

english, 2018

16

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, van der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.68 MB

english, 2018

17

OntoCAT - a simpler way to access ontology resources

Adamusiak, Tomasz, Burdett, Tony, van der Velde, K Joeri, Abeygunawardena, Niran, Antonakaki, Despoina, Parkinson, Helen, Swertz, Morris

Journal:

Bioentrepreneur

Année:

2010

Langue:

english

Fichier:

PDF, 490 KB

english, 2010

18

OntoCAT - a simpler way to access ontology resources

Adamusiak, Tomasz, Burdett, Tony, van der Velde, K Joeri, Abeygunawardena, Niran, Antonakaki, Despoina, Parkinson, Helen, Swertz, Morris

Journal:

Bioentrepreneur

Année:

2010

Fichier:

PDF, 490 KB

2010

19

A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

van der Velde, K. Joeri, van den Hoek, Sander, van Dijk, Freerk, Hendriksen, Dennis, van Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema-Raddatz, Birgit, Swertz, M

Journal:

Genetics & Genomics Next

Année:

2020

Fichier:

PDF, 1.93 MB

2020

20

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Li, Shuang, van der Velde, K. Joeri, de Ridder, Dick, van Dijk, Aalt D. J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, van Gijn, Marielle E., Abbott, Kr

Journal:

Genome Medicine

Année:

2020

Fichier:

PDF, 1.08 MB

2020