Uta Diebold

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

Ute Hehr, Uta Diebold, Dagmar Wahl et al. · European Journal of Pediatrics · 2004 · 55 citations

Life Sciences, Genetics, Molecular Genetics +11

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Astrid Pechmann, Max Behrens, Katharina Dörnbrack et al. · Orphanet Journal of Rare Diseases · 2022 · 40 citations · Full text

Medicine, Neurology, Pediatrics +14

Use of Intrathecal Baclofen in Children and Adolescents: Interdisciplinary Consensus Table 2013

S Lütjen, W Voss, Uta Diebold et al. · Neuropediatrics · 2014 · 29 citations

Medicine, Neurology, Pediatrics +15

Benign Childhood Epilepsy with Centrotemporal Spikes and Electroencephalography Trait are Not Linked to EBN1 and EBN2 of Benign Neonatal Familial Convulsions

Bernd A. Neubauer, Hans W. Moises, Stephan Waltz et al. · Epilepsia · 1997 · 21 citations · Full text

Medicine, Neurology, Neuroscience +17

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving <i>PTEN</i> and <i>BMPR1A</i>

Monika M. Golas, Bernd Auber, Tim Ripperger et al. · American Journal of Medical Genetics Part A · 2019 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17