Publications by authors named "Eline Overwater"

13 Publications

  • Page 1 of 1

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Mol Genet Genomic Med 2019 02 28;7(2):e00518. Epub 2018 Nov 28.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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February 2019

Iris Flocculi and Type B Aortic Dissection.

Ophthalmology 2017 11;124(11):1711

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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November 2017

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.

Haematologica 2016 09 31;101(9):1018-27. Epub 2016 May 31.

School of Biochemistry, University of Bristol, UK National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Red Blood Cell Products, University of Bristol, UK

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September 2016

Germline Mutations in Predisposition Genes in Pediatric Cancer.

N Engl J Med 2016 04;374(14):1390-1

Academic Medical Center, Amsterdam, the Netherlands.

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April 2016