de Vries R R - OmicsDI

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Senior Director, Dynamic Omics, CGR, One Medimmune Way Gaithersburg, MD 20878 (2)
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1Department of Experimental Hematology, Cancer Research Center Groningen, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands (1)
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Food Chemistry, Wageningen Universiy & Research, The Netherlands (1)
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Proteomics Center, Erasmus MC, Rotterdam, the Netherlands (1)
University of Groningen, Department of > Analytical Biochemistry (1)
Westphalian Wilhelms-University Münster Institute for Biology and Biotechnology of Plants Green Biotechnology Schlossplatz 8 48143 Münster (1)

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R-loop-induced DNA replication defects drive neuropathy in Koolen-de Vries syndrome

PRJNA1222997 | ENA

R-loop-induced DNA replication defects drive neuropathy in Koolen-de Vries syndrome

Koolen-de Vries syndrome (KdVS) is a neurodevelopmental disorder caused by KANSL1 haploinsufficiency. KANSL1 encodes a scaffold protein of the non-specific lethal (NSL) complex, which regulates transcription of constitutively expressed genes via acetylation of H4K5 and H4K8 around transcription star...

ORGANISM(S): Homo sapiens

2026-02-10 | GSE289456 | GEO

Fluorenone imidazolium salts as novel de Vries materials.

Not available

S-EPMC9055108 | biostudies-literature

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.

Not available

S-EPMC8440607 | biostudies-literature

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.

Not available

S-EPMC10136706 | biostudies-literature

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Not available

S-EPMC10923882 | biostudies-literature

Koolen-de Vries Syndrome: Preliminary Observations of Topiramate Efficacy.

Not available

S-EPMC8173995 | biostudies-literature

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Not available

S-EPMC4930086 | biostudies-literature

Expression profiling of Moraxella catarrhalis RH4 during in vitro growth in brain heart infusion (BHI) medium

Transcriptome analysis of M. catarrhalis RH4 predicted coding sequences and clustered regularly interspaced short palindromic repeats (CRISPRs) regions. The results described in this study are further discussed in De Vries, S.P.W., van Hijum, S.A.F.T., Schueler, W., Riesbeck, K., Hays, J.P., Hermans...

ORGANISM(S): Moraxella catarrhalis RH4

2010-05-07 | E-GEOD-21632 | biostudies-arrayexpress

Effects of β-Fructans Fiber on Bowel Function: A Systematic Review and Meta-Analysis.

Not available

S-EPMC6356805 | biostudies-literature

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