Institute of Human Genetics

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2019) Rappold GA, Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, et al. Conference contribution Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations (2019) Cameron JM, Maljevic S, Nair U, Aung YH, Cogne B, Bezieau S, Blair E, et al. Journal article Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson's Disease (2019) Sommer A, Marxreiter F, Krach F, Fadler T, Grosch J, Maroni M, Gräf D, et al. Journal article, Erratum The role of Nav1.7 in human nociceptors: Insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients (2019) Meents JE, Bressan E, Sontag S, Foerster A, Hautvast P, Rösseler C, Hampl M, et al. Journal article IMPACT OF INTERLEUKIN 17 BLOCKING AGENT ON CLINICAL OUTCOME IN SAPHO PATIENTS (2019) Assmann G, Bittenbring JT, Wagner AD, Schreiber M, Christofyllakis K, Hüffmeier U, Pfoehler C, Neumann F Conference contribution Proteome-wide analysis of chaperone-mediated autophagy targeting motifs (2019) Kirchner P, Bourdenx M, Madrigal-Matute J, Tiano S, Diaz A, Bartholdy BA, Will B, Cuervo AM Journal article Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability (2019) Popp B, Agaimy A, Kraus C, Knaup K, Ekici AB, Uebe S, Reis A, et al. Journal article Magnetic Tissue Engineering of the Vocal Fold Using Superparamagnetic Iron Oxide Nanoparticles (2019) Poettler M, Fliedner A, Bergmann J, Bui LK, Mühlberger M, Braun C, Graw M, et al. Journal article Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants (2019) Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, et al. Journal article Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila (2019) Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A Journal article, Review article