Diana Mitter

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa et al. · Human Genetics · 2006 · 229 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Christian P. Kratz, Lude Franke, Harm Peters et al. · British Journal of Cancer · 2015 · 207 citations · Full text

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

Diana Mitter, Karin Buiting, Ferdinand von Eggeling et al. · American Journal of Medical Genetics Part A · 2006 · 140 citations · Full text

The synaptophysin/synaptobrevin interaction critically depends on the cholesterol content

Diana Mitter, Clemens Reisinger, Britta Hinz et al. · Journal of Neurochemistry · 2002 · 129 citations

The Human Retinoblastoma Gene Is Imprinted

Deniz Kanber, Tea Berulava, Ole Ammerpohl et al. · PLoS Genetics · 2009 · 128 citations · Full text

Chromatin, Lineage Plasticity, Developmental Biology +11