Author

E. H. Hoefsloot

Observed names: E H Hoefsloot, E.H. Hoefsloot, ELISABETH H. HOEFSLOOT, Elisabeth H Hoefsloot, Elisabeth H. Hoefsloot, Elizabeth H. Hoefsloot, Hoefsloot, E. H., Hoefsloot, E.H. (Lies), Hoefsloot, Elisabeth H.

Institution: Erasmus MC

Observed institutions: Radboud University Nijmegen, Maastricht University Medical Centre, Erasmus MC, Radboud University Medical Center, Erasmus MC - Sophia Children’s Hospital, Donders Institute for Brain, Cognition and Behaviour, Erasmus University Rotterdam

OpenAlex ID: A5070565616

Meier-Gorlin syndrome

2015 · Sonja A. de Munnik, Elisabeth H. Hoefsloot, et al. · Orphanet Journal of Rare Diseases · 85

PDF

Clinical and Molecular Genetic Analysis of Best Vitelliform Macular Dystrophy

2009 · CAMIEL J. F. BOON, THOMAS THEELEN, et al. · Retina · 70

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

2018 · Mieke Wesdorp, Silvia Murillo-Cuesta, et al. · The American Journal of Human Genetics · 49

PDF

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

2010 · Barend F T Hogewind, Ronald J E Pennings, et al. · PubMed Central · 48

A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

2004 · Maurice A.M. van Steensel, Peter M. Steijlen, et al. · Journal of Investigative Dermatology · 48

PDF

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

1999 · M J L Ligtenberg, F B L Hogervorst, et al. · British Journal of Cancer · 46

PDF

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

2023 · Richelle A. C. M. Olde Keizer, Abderrahim Marouane, et al. · European Journal of Pediatrics · 28

PDF

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

2015 · Eline van Beelen, Anne M. M. Oonk, et al. · Ear and Hearing · 20

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

2021 · Jeroen J. Smits, Suzanne E. de Bruijn, et al. · Human Genetics · 19

PDF

Cell-free translation of human lysosomal α-glucosidase: Evidence for reduced precursor synthesis in an adult patient with glycogenosis type II

1987 · Gijsbertus T.J. van der Horst, Elizabeth H. Hoefsloot, et al. · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 15

Stable Long-Term Outcomes after Cochlear Implantation in Subjects with TMPRSS3 Associated Hearing Loss: A Retrospective Multicentre Study

2023 · M. L. A. Fehrmann, W. J. Huinck, et al. · Journal of Otolaryngology - Head and Neck Surgery · 6

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

2021 · Jeroen J. Smits, Suzanne E. de Bruijn, et al. · Human Genetics · 1

PDF

Clinical Diversity in Lysosomal Storage Disorders: Molecular and Cellular Aspects

1988 · A. J. J. Reuser, R. Willemsen, et al. · Springer eBooks · 1

Additional file 2 of Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

2026 · Fehrmann, M. L. A., Huinck, W. J., et al. · Figshare

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

2023 · Fehrmann, M. L. A., Huinck, W. J., et al. · Figshare

Additional file 1: Table S1. of Meier-Gorlin syndrome

2015 · de Munnik, Sonja, Hoefsloot, Elisabeth H., et al. · Figshare

Glycogenosis type II : cloning and characterization of the human lysosomal α-glucosidase gene

1991 · Hoefsloot, E.H. (Lies) · RePub (Erasmus University Rotterdam)

PDF

Works count: 18

Citation count: 436

H-index: 10

I10-index: 10