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Search Results - Juncker, Inger
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Cardiac involvement in myotonic dystrophy: a nationwide cohort study
by
Lund, Marie
,
Diaz, Lars Jorge
,
Ranthe, Mattis Flyvholm
,
Petri, Helle
,
Duno, Morten
,
Juncker, Inger
,
Eiberg, Hans
,
Vissing, John
,
Bundgaard, Henning
,
Wohlfahrt, Jan
,
Melbye, Mads
Published in
European heart journal
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Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation
by
HAUBEK, DORTE
,
GJØRUP, HANS
,
JENSEN, LILLIAN G.
,
JUNCKER, INGER
,
NYEGAARD, METTE
,
BØRGLUM, ANDERS D.
,
POULSEN, SVEN
,
HERTZ, JENS M.
Published in
International journal of paediatric dentistry
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Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation: FAM83H-associated hypocalcified AI
by
HAUBEK, DORTE
,
GJØRUP, HANS
,
JENSEN, LILLIAN G.
,
JUNCKER, INGER
,
NYEGAARD, METTE
,
BØRGLUM, ANDERS D.
,
POULSEN, SVEN
,
HERTZ, JENS M.
Published in
International journal of paediatric dentistry
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Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene
by
HERTZ, Jens Michael
,
PERSSON, Uif
,
JUNCKER, Inger
,
SEGELMARK, Marten
Published in
Human genetics
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Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen α3 chain
by
Persson, Ulf
,
Hertz, Jens Michael
,
Carlsson, Malin
,
Hellmark, Thomas
,
Juncker, Inger
,
Wieslander, Jörgen
,
Segelmark, Mårten
Published in
Nephrology, dialysis, transplantation
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Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain
by
Persson, Ulf
,
Hertz, Jens Michael
,
Carlsson, Malin
,
Hellmark, Thomas
,
Juncker, Inger
,
Wieslander, Jörgen
,
Segelmark, Mårten
Published in
Nephrology, dialysis, transplantation
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Detection of mutations in the COL4A5 gene by SSCP in X‐linked Alport syndrome
by
Hertz, Jens Michael
,
Juncker, Inger
,
Persson, Ulf
,
Matthijs, Gert
,
Schmidtke, Jörg
,
Petersen, Michael B.
,
Kjeldsen, Margrethe
,
Gregersen, Niels
Published in
Human mutation
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Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen 3 chain
by
Persson, U.
,
Hertz, J. M.
,
Carlsson, M.
,
Hellmark, T.
,
Juncker, I.
,
Wieslander, J.
,
Segelmark, M.
Published in
Nephrology, dialysis, transplantation
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Family studies of complement C4 and HLA in man
by
Bruun-Petersen, G
,
Lamm, L U
,
Sørensen, I J
,
Buskjaer, L
,
Mortensen, J P
Published in
Human genetics
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A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
by
Hertz, Jens Michael
,
Hansen, Karen Nørgaard
,
Juncker, Inger
,
Kjeldsen, Margrethe
,
Gregersen, Niels
Published in
Clinical genetics
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Genetic studies of complement C4 in man
by
Petersen, G B
,
Sørensen, I J
,
Buskjaer, L
,
Lamm, L U
Published in
Human genetics
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