Search Results - "Ousager, L.B."

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  1. 1
    Duplication of 7q36.3 encompassing the Sonic Hedgehog ( SHH ) gene is associated with congenital muscular hypertrophy

    Duplication of 7q36.3 encompassing the Sonic Hedgehog ( SHH ) gene is associated with congenital muscular hypertrophy by 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)
    “…Abstract Muscular hypertrophy is a very rare finding on foetal ultrasonography. We present a case with recurrent muscular hypertrophy, liver enlargement and…”
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  2. 2
    Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome: Correspondence

    Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome: Correspondence by Ousager, L.B., Bygum, A., Hafner, C.

    Published in British journal of dermatology (1951) (01-07-2012)
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  3. 3
    National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    National mutation study among Danish patients with hereditary haemorrhagic telangiectasia by Tørring, P.M., Brusgaard, K., Ousager, L.B., Andersen, P.E., Kjeldsen, A.D.

    Published in Clinical genetics (01-08-2014)
    “…Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous…”
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  4. 4
    Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome

    Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome by Ousager, L.B., Bygum, A., Hafner, C.

    Published in British journal of dermatology (1951) (01-07-2012)
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  5. 5
    Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism: Acromelic frontonasal dysostosis and ZSWIM6 mutation

    Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism: Acromelic frontonasal dysostosis and ZSWIM6 mutation by 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)
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  6. 6
    Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

    Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism by 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)
    “…Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A…”
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  7. 7
    Skin manifestations in a case of trisomy 16 mosaicism: Skin and mosaic trisomy 16

    Skin manifestations in a case of trisomy 16 mosaicism: Skin and mosaic trisomy 16 by Ousager, L.B., Brandrup, F., Brasch-Andersen, C., Erlendsson, A.

    Published in British journal of dermatology (1951) (01-01-2006)
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  8. 8
    Skin manifestations in a case of trisomy 16 mosaicism

    Skin manifestations in a case of trisomy 16 mosaicism by Ousager, L.B., Brandrup, F., Brasch-Andersen, C., Erlendsson, A.

    Published in British journal of dermatology (1951) (01-01-2006)
    “…Summary We present a 48‐year‐old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and…”
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