Eur J Hum Genet

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

Klar J, Ali Z, Farooq M, ..., Baig SM, Dahl N

Eur J Hum Genet 25 (7) 848-853 [2017-06-00; online 2017-05-10]

Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G

Eur J Hum Genet 24 (2) 198-207 [2016-02-00; online 2015-05-13]

Clinical Genomics Stockholm