Helle Høyer

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 4

Top Topics

Magnetic Resonance Imaging

Intellectual Disability

Top Venues

Case reports in genetics

Journal of medical genetics

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Helle Høyer, Ola Nakken, Trygve Holmøy
A Novel SPAST Variant Associated with Isolated Spastic Paraplegia. Case reports in genetics 2023 (2023)
Helle Høyer, Ola Nakken, Trygve Holmøy
A Novel SPAST Variant Associated with Isolated Spastic Paraplegia. Case reports in genetics 2023 (2023)
Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon. Journal of medical genetics 59 (10) (2022)
Silvia Amor-Barris, Helle Høyer, Lin V Brauteset, Els De Vriendt, Linda Strand, Albena Jordanova, Geir J Braathen, Kristien Peeters
HINT1 neuropathy in Norway: clinical, genetic and functional profiling. Orphanet journal of rare diseases 16 (1) (2021)