Ramona Jühlen

A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Katrin Koehler, Miroslav P. Milev, Keshika Prematilake et al. · Journal of Medical Genetics · 2016 · 54 citations

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

Hirohito Shima, Katrin Koehler, Yumiko Nomura et al. · Journal of Medical Genetics · 2017 · 54 citations

Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis

Ramona Jühlen, Jan Idkowiak, Angela E. Taylor et al. · PLoS ONE · 2015 · 49 citations · Full text

Protein Aladin, Genetics, Human Adrenocortical Cells +23

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Edith Bonnin, Pauline Cabochette, Alessandro Filosa et al. · PLoS Genetics · 2018 · 32 citations · Full text

Identification of a novel putative interaction partner of the nucleoporin ALADIN

Ramona Jühlen, Dana Landgraf, Angela Huebner et al. · Biology Open · 2016 · 22 citations · Full text