Publications by authors named "K Floor"

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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
E Overwater, K Floor, D van Beek, K de Boer, T van Dijk

Eur J Med Genet· September 2017

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A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Daniela V Pilonetto, Noemi F Pereira, Carmem M S Bonfim, Lisandro L Ribeiro, Marco A Bitencourt, Karijn Floor

Mol Genet Genomic Med· July 2017

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Overexpression of MRP4 (ABCC4) and MRP5 (ABCC5) confer resistance to the nucleoside analogs cytarabine and troxacitabine, but not gemcitabine.
Auke D Adema, Karijn Floor, Kees Smid, Richard J Honeywell, George L Scheffer

Springerplus· February 2015

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A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
Karijn Floor, Tuva Barøy, Doriana Misceo, Oivind J Kanavin, Madeleine Fannemel

Eur J Med Genet· December 2012

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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Johan J P Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje

Anemia· August 2012

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