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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
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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
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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
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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
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Clinical Genetics
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European Journal Of Medical Genetics
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7Q36.3
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Abnormalities, Multiple - Genetics
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Abnormalities, Multiple - Physiopathology
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Aborted Fetus - Abnormalities
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Acvrl1
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Amino Acid Sequence
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Array-Cgh
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Arteriovenous Malformations - Complications
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Chromosomes, Human, Pair 7 - Genetics
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Sciencedirect Freedom Collection 2022-2024
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