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11 . Academic Journal
Comprehensive evaluation of smoking exposures and their interactions on DNA methylation
저자
by
Heijmans, Bastiaan
;
’t Hoen, Peter
;
van Meurs, Joyce
;
Jansen, Rick
;
Franke, Lude
, et al.
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eBioMedicine
February 2024 100
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17 . Academic Journal
Drug repurposing for rare: progress and opportunities for the rare disease community
저자
by
Anneliene Hechtelt Jonker
;
Daniel O’Connor
;
Maria Cavaller-Bellaubi
;
Christine Fetro
;
Maria Gogou
, et al.
소스
Frontiers in Medicine, Vol 11 (2024)
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17 . Academic Journal
PANDORA v2.0: Benchmarking peptide-MHC II models and software improvements
저자
by
Farzaneh M. Parizi
;
Dario F. Marzella
;
Gayatri Ramakrishnan
;
Peter A. C. ‘t Hoen
;
Mohammad Hossein Karimi-Jafari
, et al.
소스
Frontiers in Immunology, Vol 14 (2023)
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17 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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17 . Academic Journal
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
저자
by
Remco T. P. van Cruchten
;
Daniël van As
;
Jeffrey C. Glennon
;
Baziel G. M. van Engelen
;
Peter A. C. ‘t Hoen
, et al.
소스
BMC Medicine, Vol 20, Iss 1, Pp 1-17 (2022)
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17 . Academic Journal
Ten quick tips for building FAIR workflows.
저자
by
Casper de Visser
;
Lennart F Johansson
;
Purva Kulkarni
;
Hailiang Mei
;
Pieter Neerincx
, et al.
소스
PLoS Computational Biology, Vol 19, Iss 9, p e1011369 (2023)
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17 . Academic Journal
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
저자
by
Bruna dos Santos Vieira
;
César H. Bernabé
;
Shuxin Zhang
;
Haitham Abaza
;
Nirupama Benis
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
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17 . Academic Journal
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
저자
by
van Cruchten, Remco T. P.
;
van As, Daniël
;
Glennon, Jeffrey C.
;
van Engelen, Baziel G. M.
;
‘t Hoen, Peter A. C.
.
소스
BMC Medicine
. 20(1)
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17 . Academic Journal
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
저자
by
K. Joeri van der Velde
;
Gurnoor Singh
;
Rajaram Kaliyaperumal
;
XiaoFeng Liao
;
Sander de Ridder
, et al.
소스
Scientific Data, Vol 9, Iss 1, Pp 1-13 (2022)
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17 . Academic Journal
Phenotype prediction using biologically interpretable neural networks on multi-cohort multi-omics data.
저자
by
van Hilten, Arno
;
van Rooij, Jeroen
;
Heijmans, Bastiaan T.
;
't Hoen, Peter A. C.
;
Meurs, Joyce van
, et al.
소스
NPJ Systems Biology & Applications; 8/2/2024, Vol. 10 Issue 1, p1-10, 10p
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