Ann-Charlotte Thuresson

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 3

Top Topics

Intellectual Disability

Top Venues

Clinical genetics

Molecular genetics & genomic medicine

Uppsala University Hospital

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

Affiliation History

Uppsala University Hospital Jan 08 2003

Sweden

Clinical Laboratory Geneticist

Publications

Ann-Charlotte Thuresson, Jan Brazina, Talia Akram, Julia Albrecht, Niklas Dahl, Cecilia Soussi Zander, Keith W Caldecott
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay. Molecular genetics & genomic medicine (2023)
Ann-Charlotte Thuresson, Brittany Croft, Yasmin D Hailer, Gunnar Liminga, Carl-Göran Arvidsson, Vincent R Harley, Eva-Lena Stattin
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3. Clinical genetics 99 (2) (2021)
Ann-Charlotte Thuresson, Cecilia Soussi Zander, Jin J Zhao, Jonatan Halvardson, Khurram Maqbool, Else Månsson, Eric Stenninger, Ulrika Holmlund, Ylva Öhrner, Lars Feuk
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. Clinical genetics 95 (3) (2018)