Julia Vornweg (J Vornweg)

Publication Activity (10 Years)

Years Active: 2021-2021
Publications (10 Years): 2

Top Topics

Intellectual Disability

Muscular Dystrophy

Transcription Factor

Top Venues

Molecular genetics & genomic medicine

The British journal of dermatology

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

Publications

Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Molecular genetics & genomic medicine 9 (3) (2021)
Julia Vornweg, S Gläser, M Ahmad-Anwar, Andreas David Zimmer, M Kuhn, S Hörer, G C Korenke, J Grothaus, H Ott, Judith Fischer
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. The British journal of dermatology 184 (6) (2021)