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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.
Am J Hum Genet. 2019.
PMID: 31031012
Free PMC article.
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G.
Lien E, et al. Among authors: ostern r.
Ann Neurol. 2016 Aug;80(2):311-2. doi: 10.1002/ana.24699. Epub 2016 Jun 28.
Ann Neurol. 2016.
PMID: 27273810
No abstract available.
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Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Kerkhofs C, Stevens SJC, Faust SN, Rae W, Williams AP, Wurm P, Østern R, Fockens P, Würfel C, Laass M, Kokke F, Stegmann APA, Brunner HG.
Kerkhofs C, et al. Among authors: ostern r.
Hum Mutat. 2020 Jan;41(1):196-202. doi: 10.1002/humu.23909. Epub 2019 Sep 23.
Hum Mutat. 2020.
PMID: 31498527
Free PMC article.
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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE.
Jain V, et al. Among authors: ostern r.
Eur J Hum Genet. 2023 Dec;31(12):1421-1429. doi: 10.1038/s41431-023-01447-0. Epub 2023 Sep 14.
Eur J Hum Genet. 2023.
PMID: 37704779
Free PMC article.
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Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.
Arntzen KA, Høyer H, Ørstavik K, Tallaksen C, Vedeler C, Østern R, Nebuchennykh M, Braathen GJ, Fagerheim T.
Arntzen KA, et al. Among authors: ostern r.
Neuromuscul Disord. 2018 Aug;28(8):639-645. doi: 10.1016/j.nmd.2018.06.004. Epub 2018 Jun 15.
Neuromuscul Disord. 2018.
PMID: 30001926
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Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.
Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A.
Østern R, et al.
Neuromuscul Disord. 2012 Jun;22(6):511-21. doi: 10.1016/j.nmd.2012.01.011. Epub 2012 Apr 2.
Neuromuscul Disord. 2012.
PMID: 22475618
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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 R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø.
Østern R, et al.
BMC Med Genet. 2013 Sep 21;14:94. doi: 10.1186/1471-2350-14-94.
BMC Med Genet. 2013.
PMID: 24053775
Free PMC article.
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Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.
Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø.
Østern R, et al.
BMC Med Genet. 2014 Jan 21;15:12. doi: 10.1186/1471-2350-15-12.
BMC Med Genet. 2014.
PMID: 24444136
Free PMC article.
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