Gertrud Strobl‐Wildemann

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation

Michaela Auer‐Grumbach, Beate Schlotter‐Weigel, Hanns Lochmüller et al. · Annals of Neurology · 2005 · 112 citations

<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet, Robert Jech, Melanie Brügger et al. · Clinical Genetics · 2021 · 111 citations · Full text

Neurogenomics, Brain Development, Genetics +28

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

Magdalena Gogiel, Matthias Begemann, Sabrina Spengler et al. · European Journal of Human Genetics · 2012 · 54 citations · Full text

Cytogenetics, Genetic Disorder, Genetics +9

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Gabriele Wildhardt, Birgit Zirn, Luitgard Graul‐Neumann et al. · BMJ Open · 2013 · 48 citations · Full text

LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs

Saskia M. Herbst, Christiane R. Proepper, Tobias Geis et al. · Brain and Development · 2015 · 38 citations

Antiepileptic Drugs, Medicine, Neuropharmacology +6