Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions
Bredrup, Cecilie, Cristea, Ileana, Safieh, Leen Abu, Di Maria, Emilio, Gjertsen, Bjørn Tore, Tveit, Kåre Steinar, Thu, Frode, Bull, Nils, Edward, Deepak P, Hennekam, Raoul C M, Høvding, Gunnar, Haugen, Olav H, Houge, Gunnar, Rødahl, Eyvind, Bruland, Ove
Published in Human molecular genetics (25.03.2021)
Published in Human molecular genetics (25.03.2021)
Get full text
Journal Article
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
Bredrup, Cecilie, Stokowy, Tomasz, McGaughran, Julie, Lee, Samuel, Sapkota, Dipak, Cristea, Ileana, Xu, Linda, Tveit, Kåre Steinar, Høvding, Gunnar, Steen, Vidar Martin, Rødahl, Eyvind, Bruland, Ove, Houge, Gunnar
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
Get full text
Journal Article
Ocular pterygium-Digital keloid dysplasia
Abarca, Hugo, Mellgren, Anne E Christensen, Trubnykova, Milana, Haugen, Olav H., Høvding, Gunnar, Tveit, Kåre Steinar, Houge, Gunnar, Bredrup, Cecilie, Hennekam, Raoul C
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
Get full text
Journal Article
Contrast sensitivity and the effect of 60‐hour sleep deprivation
Koefoed, Vilhelm F., Aßmus, Jörg, Gould, Kristian S., Hövding, Gunnar, Moen, Bente E.
Published in Acta ophthalmologica (Oxford, England) (01.05.2015)
Published in Acta ophthalmologica (Oxford, England) (01.05.2015)
Get full text
Journal Article
Øyeforandringer ved Downs syndrom
Haugen, Olav H, Høvding, Gunnar, Riise, Ruth
Published in Tidsskrift for den Norske Lægeforening (22.01.2004)
Get full text
Published in Tidsskrift for den Norske Lægeforening (22.01.2004)
Journal Article
Refractive development in children with Down's syndrome: a population based, longitudinal study
Haugen, Olav H, Høvding, Gunnar, Lundström, Isa
Published in British journal of ophthalmology (01.06.2001)
Published in British journal of ophthalmology (01.06.2001)
Get full text
Journal Article
Ocular changes in Down syndrome
Haugen, Olav H, Høvding, Gunnar, Riise, Ruth
Published in Tidsskrift for den Norske Lægeforening (22.01.2004)
Get full text
Published in Tidsskrift for den Norske Lægeforening (22.01.2004)
Journal Article
Kan arbeidsrelaterte øyeskader unngås?
Bull, Nils, Høvding, Gunnar, Riise, Trond, Moen, Bente E
Published in Tidsskrift for den Norske Lægeforening (04.11.2004)
Get full text
Published in Tidsskrift for den Norske Lægeforening (04.11.2004)
Journal Article