J. Neurol. Sci.

Novel findings in a Swedish primary familial brain calcification cohort.

Sennfält S, Gustavsson P, Malmgren H, ..., Svenningsson P, Paucar M

J. Neurol. Sci. 460 (-) 123020 [2024-05-15; online 2024-04-18]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Ali Z, Klar J, Jameel M, ..., Baig S, Dahl N

J. Neurol. Sci. 371 (-) 105-111 [2016-12-15; online 2016-11-23]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]