Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1 von Heimdal, K., Dalhus, B., Rødningen, O.K., Kroken, M., Eiklid, K., Dheyauldeen, S., Røysland, T., Andersen, R., Kulseth, M.A.

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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 von Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.

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15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems von von der Lippe, C, Rustad, C, Heimdal, K, Rødningen, O.K

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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syn... von 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.

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Homocarnosinosis: A historical update and findings in the SPG11 gene von Sjaastad, O., Blau, N., Rydning, S. L., Peters, V., Rødningen, O., Stray‐Pedersen, A., Krossnes, B., Tallaksen, C., Koht, J.

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Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies von 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.

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Transcriptional response to ionizing radiation in human radiation sensitive cell lines von Landmark, H, Nahas, S.A, Aarøe, J, Gatti, R, Børresen-Dale, A.-L, Rødningen, O.K

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Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome seque... von Bayer, D. K., Martinez, C. A., Sorte, H. S., Forbes, L. R., Demmler‐Harrison, G. J., Hanson, I. C., Pearson, N. M., Noroski, L. M., Zaki, S. R., Bellini, W. J., Leduc, M. S., Yang, Y., Eng, C. M., Patel, A., Rodningen, O. K., Muzny, D. M., Gibbs, R. A., Campbell, I. M., Shaw, C. A., Baker, M. W., Zhang, V., Lupski, J. R., Orange, J. S., Seeborg, F. O., Stray‐Pedersen, A.

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Molecular genetics of familial hypercholesterolaemia in Norway von LEREN, T. P., TONSTAD, S., GUNDERSEN, K. E., BAKKEN, K. S., RØDNINGEN, O. K., SUNDVOLD, H., OSE, L., BERG, K.

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Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects von Leren, Trond P., Solberg, Kari, Rødningen, Olaug K., Tonstad, Serena, Ose, Leiv

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The genetic algorithm applied to haplotype data at the LDL receptor locus von Braaten, Øivind, Rødningen, Olaug K, Nordal, Inger, Leren, Trond P

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Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia von LEREN, T. P, SUNDVOLD, H, RØDNINGEN, O. K, TONSTAD, S, SOLBERG, K, OSE, L, BERG, K

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Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia von LEREN, T. P, SOLBERG, K, RØDNINGEN, O. K, TONSTAD, S, OSE, L

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Application of long polymerase chain reaction in the study of the LDL receptor gene von Rødningen, O. K., Leren, T. P.

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Mutant transcripts of the LDL receptor gene: mRNA structure and quantity von Rødningen, Olaug K., Tonstad, Serena, Saugstad, Ola Didrik, Ose, Leiv, Leren, Trond P.

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Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene von Rødningen, O K, Tonstad, S, Medh, J D, Chappell, D A, Ose, L, Leren, T P

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Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene von Solberg, K., Rødningen, O. K., Tonstad, S., Ose, L., Leren, T. P.

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Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA von Rødningen, Olaug K., Tonstad, Serena, Ose, Leiv, Berg, Kåre, Leren, Trond P.

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Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms : detection of a nonsense mutation-FH4... von LEREN, T. P, SOLBERG, K, RØDNINGEN, O. K, RØSBY, O, TONSTAD, S, OSE, L, BERG, K

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Identification of the apo B-3500 mutation in the Norwegian population von Leren, T. P., Rosdningen, O. K., Tonstad, S., Rossby, O., Urdal, P., Ose, L.

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