Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J, Davies, Sally J, Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E, Greenhalgh, Lynn, Holder, Susan E, Johnson, Diana, Kumar, Ajith, Ladda, Roger L, Sell, Susan, Begtrup, Amber, Lynch, Sally A, McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E
Published in European journal of human genetics : EJHG (01.12.2023)
Published in European journal of human genetics : EJHG (01.12.2023)
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Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature
Kerkhofs, Chantal, Stevens, Servi J. C., Faust, Saul N., Rae, William, Williams, Anthony P., Wurm, Peter, Østern, Rune, Fockens, Paul, Würfel, Christiane, Laass, Martin, Kokke, Freddy, Stegmann, Alexander P. A., Brunner, Han G.
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Østern, Rune, Fagerheim, Toril, Hjellnes, Helene, Nygård, Bjørn, Mellgren, Svein I, Nilssen, Øivind
Published in BMC genetics (21.09.2013)
Published in BMC genetics (21.09.2013)
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Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene
Østern, Rune, Fagerheim, Toril, Ørstavik, Kristin, Holmøy, Trygve, Heiberg, Arvid, Lund-Petersen, Inger, Strom, Tim M, Nilssen, Øivind, Dahl, Arve
Published in Neuromuscular disorders : NMD (01.06.2012)
Published in Neuromuscular disorders : NMD (01.06.2012)
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A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy
Lien, Espen, Våtevik, Anne Karine, Østern, Rune, Haukanes, Bjørn Ivar, Houge, Gunnar
Published in Annals of neurology (01.08.2016)
Published in Annals of neurology (01.08.2016)
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Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
Arntzen, Kjell Arne, Høyer, Helle, Ørstavik, Kristin, Tallaksen, Chantal, Vedeler, Christian, Østern, Rune, Nebuchennykh, Maria, Braathen, Geir Julius, Fagerheim, Toril
Published in Neuromuscular disorders : NMD (01.08.2018)
Published in Neuromuscular disorders : NMD (01.08.2018)
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