Frauke Coppieters

Frauke Coppieters

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Frauke Coppieters

Frauke Coppieters

Publications by authors named "Frauke Coppieters"

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36Publications

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The development of a novel SNP genotyping assay to differentiate cacao clones.

Sci Rep 2019 Jul 2;9(1):9512. Epub 2019 Jul 2.

Research unit Molecular Biology, Department of Biotechnology, Faculty of Bioscience Engineering, Ghent University, Ghent, 9000, Belgium.

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http://dx.doi.org/10.1038/s41598-019-45884-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606624PMC
July 2019

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing -Associated Autosomal Dominant Retinitis Pigmentosa.

Genes (Basel) 2019 05 10;10(5). Epub 2019 May 10.

Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium.

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http://dx.doi.org/10.3390/genes10050363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562693PMC
May 2019

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

Clin Pediatr (Phila) 2018 07 27;57(8):981-985. Epub 2017 Sep 27.

1 Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1177/0009922817733705DOI Listing
July 2018

High-throughput PCR assay design for targeted resequencing using primerXL.

BMC Bioinformatics 2017 Sep 6;18(1):400. Epub 2017 Sep 6.

Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1186/s12859-017-1809-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588703PMC
September 2017

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Sci Rep 2017 06 16;7(1):3702. Epub 2017 Jun 16.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41598-017-02434-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473876PMC
June 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Genet Med 2017 04 4;19(4):367-376. Epub 2016 Aug 4.

Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1038/gim.2016.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392598PMC
April 2017

Targeted resequencing and variant validation using pxlence PCR assays.

Biomol Detect Quantif 2016 Jan 9;6:22-6. Epub 2015 Oct 9.

Center for Medical Genetics, Ghent University, Ghent, Belgium; pxlence, Dendermonde, Belgium.

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http://dx.doi.org/10.1016/j.bdq.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822215PMC
January 2016

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy.

Retina 2013 Nov-Dec;33(10):2118-25

*Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium; †Department of Ophthalmology, Mount Sinai Medical Center, New York, New York; ‡Bannett Eye Center, Woodbury, New Jersey; and §Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1097/IAE.0b013e3182899274DOI Listing
March 2014

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Mol Vis 2012 5;18:1849-57. Epub 2012 Jul 5.

Center for Medical Genetics, Hospital Erasme, ULB, 808 route de Lennik, Brussels, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398502PMC
November 2012

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

Doc Ophthalmol 2012 Oct 19;125(2):161-8. Epub 2012 Jun 19.

University Eye Clinic, University Hospital Sveti Duh, 11. Podbrezje 26A, 10020 Zagreb, Croatia.

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http://link.springer.com/10.1007/s10633-012-9337-y
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http://dx.doi.org/10.1007/s10633-012-9337-yDOI Listing
October 2012

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Hum Mutat 2010 Oct;31(10):1097-108

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.21337DOI Listing
October 2010

Local complement activation in nasal polyposis.

Laryngoscope 2009 Sep;119(9):1753-8

Upper Airway Research Laboratory, Department of Otorhinolaryngology, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1002/lary.20484DOI Listing
September 2009