Publications by authors named "Elisabeth H Hoefsloot"

5Publications

Meier-Gorlin syndrome.

Orphanet J Rare Dis 2015 Sep 17;10:114. Epub 2015 Sep 17.

Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0322-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574002PMC
September 2015

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

Ear Hear 2016 Jan-Feb;37(1):103-11

1Department of Otorhinolaryngology, Head and Neck Surgery, Radboud university medical center, Nijmegen, The Netherlands; 2Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; 3Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; 5Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands; and 6Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/AUD.0000000000000217DOI Listing
September 2016

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Mol Vis 2010 Jan 12;16:26-35. Epub 2010 Jan 12.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805421PMC
January 2010

Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

Retina 2009 Jun;29(6):835-47

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IAE.0b013e31819d4fdaDOI Listing
June 2009