Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome
Ousager, L.B., Bygum, A., Hafner, C.
Published in British journal of dermatology (1951) (01.07.2012)
Published in British journal of dermatology (1951) (01.07.2012)
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National mutation study among Danish patients with hereditary haemorrhagic telangiectasia
Tørring, P.M., Brusgaard, K., Ousager, L.B., Andersen, P.E., Kjeldsen, A.D.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Journal Article
Skin manifestations in a case of trisomy 16 mosaicism
Ousager, L.B., Brandrup, F., Brasch-Andersen, C., Erlendsson, A.
Published in British journal of dermatology (1951) (01.01.2006)
Published in British journal of dermatology (1951) (01.01.2006)
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Journal Article
JP-HHT phenotype in Danish patients with SMAD4 mutations
Jelsig, A. M., Tørring, P. M., Kjeldsen, A. D., Qvist, N., Bojesen, A., Jensen, U. B., Andersen, M. K., Gerdes, A. M., Brusgaard, K., Ousager, L. B.
Published in Clinical genetics (01.07.2016)
Published in Clinical genetics (01.07.2016)
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Disease pattern in Danish patients with Peutz-Jeghers syndrome
Jelsig, A. M., Qvist, N., Sunde, L., Brusgaard, K., Hansen, Tvo, Wikman, F. P., Nielsen, C. B., Nielsen, I. K., Gerdes, A. M., Bojesen, A., Ousager, L. B.
Published in International journal of colorectal disease (01.05.2016)
Published in International journal of colorectal disease (01.05.2016)
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Duplication of 7q36.3 encompassing the Sonic Hedgehog ( SHH ) gene is associated with congenital muscular hypertrophy
Kroeldrup, L, Kjaergaard, S, Kirchhoff, M, Kock, K, Brasch-Andersen, C, Kibaek, M, Ousager, L.B
Published in European journal of medical genetics (01.10.2012)
Published in European journal of medical genetics (01.10.2012)
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Journal Article
GENE CORNER: Skin manifestations in a case of trisomy 16 mosaicism
Ousager, L B, Brandrup, F, Brasch-Andersen, C, Erlendsson, A
Published in British journal of dermatology (1951) (01.01.2006)
Published in British journal of dermatology (1951) (01.01.2006)
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Journal Article
Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia
Tørring, Pernille M, Kjeldsen, Anette D, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Brusgaard, Klaus
Published in Genetic testing and molecular biomarkers (01.12.2012)
Published in Genetic testing and molecular biomarkers (01.12.2012)
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On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO
Björkhem, Ingemar, Diczfalusy, Ulf, Lövgren-Sandblom, Anita, Starck, Lena, Jonsson, Monica, Tallman, Keri, Schirmer, Henrik, Ousager, Lilian Bomme, Crick, Peter J., Wang, Yuqin, Griffiths, William J., Guengerich, F. Peter
Published in Journal of lipid research (01.06.2014)
Published in Journal of lipid research (01.06.2014)
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