Emeli Pontén

Publication Activity (10 Years)

Years Active: 2020-2020
Publications (10 Years): 1

Top Topics

Squamous Cell Carcinoma

Intellectual Disability

Top Venues

Journal of medical genetics

Karolinska Institute

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

Affiliation History

Karolinska Institute Feb 01 2018

Sweden

PhD candidate :: Department of Molecular Medicine and Surgery

Publications

Emeli Pontén, Sofia Frisk, Fulya Taylan, Raquel Vaz, Sandra Wessman, Leanne de Kock, Niklas Pal, William D Foulkes, Kristina Lagerstedt-Robinson, Ann Nordgren
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1. Journal of medical genetics (2020)