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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
Overview
Publications
(506)
Research Grants
(9)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019)
Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al.
Conference contribution
Association analyses of functional NCF1 variants in psoriatic arthritis and psoriasis vulgaris (2019)
Hüffmeier U, Löhr S, Ekici AB, Uebe S, Koehm M, Behrens F, Boehm B, et al.
Conference contribution
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
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
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