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Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies
by
Robinson, Peter N.
,
Booms, Patrick
,
Katzke, Stefanie
,
Ladewig, Markus
,
Neumann, Luitgard
,
Palz, Monika
,
Pregla, Reinhard
,
Tiecke, Frank
,
Rosenberg, Thomas
Published in
Human mutation
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Pregnancy and SARS-CoV-2 Infection in Germany-the CRONOS Registry
by
Pecks, Ulrich
,
Kuschel, Bettina
,
Mense, Lars
,
Oppelt, Peter
,
Rüdiger, Mario
Published in
Deutsches Ärzteblatt international
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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
by
Katzke, Stefanie
,
Booms, Patrick
,
Tiecke, Frank
,
Palz, Monika
,
Pletschacher, Angelika
,
Türkmen, Seval
,
Neumann, Luitgard M.
,
Pregla, Reinhard
,
Leitner, Christa
,
Schramm, Cornelia
,
Lorenz, Peter
,
Hagemeier, Christian
,
Fuchs, Josefine
,
Skovby, Flemming
,
Rosenberg, Thomas
,
Robinson, Peter N.
Published in
Human mutation
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Clustering of mutations associated with mild Marfan-like phenotypes in the 3′ region of FBN1 suggests a potential genotype-phenotype correlation
by
Palz, Monika
,
Tiecke, Frank
,
Booms, Patrick
,
Göldner, Burkhard
,
Rosenberg, Thomas
,
Fuchs, Josefine
,
Skovby, Flemming
,
Schumacher, Hardy
,
Kaufmann, Ursula C.
,
von Kodolitsch, Yskert
,
Nienaber, Christoph A.
,
Leitner, Christa
,
Katzke, Stefanie
,
Vetter, Barbara
,
Hagemeier, Christian
,
Robinson, Peter N.
Published in
American journal of medical genetics
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Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation
by
Palz, Monika
,
Tiecke, Frank
,
Booms, Patrick
,
G ldner, Burkhard
,
Rosenberg, Thomas
,
Fuchs, Josefine
,
Skovby, Flemming
,
Schumacher, Hardy
,
Kaufmann, Ursula C.
,
von Kodolitsch, Yskert
,
Nienaber, Christoph A.
,
Leitner, Christa
,
Katzke, Stefanie
,
Vetter, Barbara
,
Hagemeier, Christian
,
Robinson, Peter N.
Published in
American journal of medical genetics
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Human Mutation
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