A novel mouse model to explore in utero malleability of the neurological dysfunction of Wiedemann-Steiner syndrome.
- Flytjandi: Tinna Reynisdóttir
- Höfundar - í stafrófsröð: Hans Tomas Björnsson, Hilmar Örn Gunnlaugsson, Kimberley Jade Anderson, Tinna Reynisdottir
Abnormal hypoxia responses in a Kabuki syndrome chondrocyte model
- Flytjandi: Sara Þöll Halldórsdóttir
- Höfundar - í stafrófsröð: Hans Tomas Björnsson, Sara Þöll Halldórsdóttir
- Lykilorð: Growth retardation, HIF1alpha, Precocious differentiation
SLC13A5 in the human brain – a road map to in vitro models
- Flytjandi: Kristín Allison
- Höfundar - í stafrófsröð: Guðmundur Norðdahl, Helgi J. Ísaksson, Kristín Allison, Sigríður Rut Franzdóttir
- Lykilorð: Genetics, Molecular biology, Stem Cells
Systematic disruption of EM genes to understand transcriptional effect and role in neurodevelopmental disorders.
- Flytjandi: Katrín Möller
- Höfundar - í stafrófsröð: Hans Tomas Björnsson, Juan Ouyang, Kaan Okay, Kasper Hansen, Katrin Möller