Thuresson A

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Thuresson AC, Croft B, Hailer YD, ..., Harley VR, Stattin EL

Clin. Genet. 99 (2) 325-329 [2021-02-00; online 2020-11-12]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Service]

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Thuresson AC, Soussi Zander C, Zhao JJ, ..., Öhrner Y, Feuk L

Clin. Genet. 95 (3) 436-439 [2019-03-00; online 2018-12-07]

Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]