15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems
von der Lippe, C, Rustad, C, Heimdal, K, Rødningen, O.K
Published in European journal of medical genetics (01.05.2011)
Published in European journal of medical genetics (01.05.2011)
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Transcriptional response to ionizing radiation in human radiation sensitive cell lines
Landmark, H, Nahas, S.A, Aarøe, J, Gatti, R, Børresen-Dale, A.-L, Rødningen, O.K
Published in Radiotherapy and oncology (01.06.2007)
Published in Radiotherapy and oncology (01.06.2007)
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Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Heimdal, K., Dalhus, B., Rødningen, O.K., Kroken, M., Eiklid, K., Dheyauldeen, S., Røysland, T., Andersen, R., Kulseth, M.A.
Published in Clinical genetics (01.02.2016)
Published in Clinical genetics (01.02.2016)
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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.
Published in American journal of medical genetics. Part A (01.02.2011)
Published in American journal of medical genetics. Part A (01.02.2011)
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Journal Article
Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies
Zink, A.M., Wohlleber, E., Engels, H., Rødningen, O.K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F.F., Kreiß-Nachtsheim, M., Vogt, P.H., Prescott, T.E., Tümer, Z., Lee, J.A.
Published in Molecular syndromology (01.02.2014)
Published in Molecular syndromology (01.02.2014)
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Journal Article
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.
Published in Human genetics (01.05.2014)
Published in Human genetics (01.05.2014)
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Journal Article
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.
Published in American Journal of Medical Genetics Part A (01.02.2011)
Published in American Journal of Medical Genetics Part A (01.02.2011)
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