List of works by Ramona Jühlen

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

scientific article published on 5 October 2016

A steady state system for in vitro evaluation of steroidogenic pathway dynamics: Application for CYP11B1, CYP11B2 and CYP17 inhibitors

scientific article published on 06 December 2018

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

scientific article published on 13 December 2018

Compensation for chronic oxidative stress in ALADIN null mice

scientific article

Computational analysis of liquid chromatography-tandem mass spectrometric steroid profiling in NCI H295R cells following angiotensin II, forskolin and abiraterone treatment

scientific article published on October 2015

Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach

scientific article published on 10 July 2020

Identification of a novel putative interaction partner of the nucleoporin ALADIN.

scientific article published on 17 October 2016

Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease

article

Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis

scientific article

Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers

scholarly article by Ramona Jühlen published in January 2018

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

scientific article published on 24 November 2017

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