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Uta Diebold
Uta Diebold
Proband
Genetics
Mutation
Pathology
Biology
3
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74
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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
2019
American Journal of Medical Genetics Part A
Monika M. Golas
Bernd Auber
Tim Ripperger
Brigitte Pabst
Gunnar Schmidt
Michel Morlot
Uta Diebold
Doris Steinemann
Brigitte Schlegelberger
Susanne Morlot
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Citations (6)
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation
2004
European Journal of Pediatrics
Ute Hehr
C. Gross
Uta Diebold
Dagmar Wahl
Ulrike Beudt
Peter Heidemann
Andreas Hehr
Dietmar Mueller
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Citations (47)
Benign Childhood Epilepsy with Centrotemporal Spikes and Electroencephalography Trait are Not Linked to EBN1 and EBN2 of Benign Neonatal Familial Convulsions
1997
Epilepsia
Bernd A. Neubauer
Hans W. Moises
Uta Lässker
Stephan Waltz
Uta Diebold
Ulrich Stephani
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Citations (21)
1