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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
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Oral Anticoagulants in the Oldest Old with Recent Stroke and Atrial Fibrillation (2021)
Polymeris AA, Macha K, Paciaroni M, Wilson D, Koga M, Cappellari M, Schaedelin S, et al.
Journal article
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation (2021)
Schwarz H, Popp B, Airik R, Torabi Sarijalo N, Knaup K, Stoeckert J, Wiech T, et al.
Journal article
Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021)
De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al.
Conference contribution
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis (2021)
Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, et al.
Journal article
Genetically Single Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in (2021)
Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, et al.
Journal article
Transcriptomes of MPO-deficient patients with generalized pustular psoriasis reveals expansion of CD4+cytotoxic T cells and an involvement of complement system and interferon pathways (2021)
Hüffmeier U, Frey B, Becker I, Atreya I, Berking C, Moessner R, Wilsmann-Theis D, et al.
Conference contribution
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021)
Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al.
Journal article
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021)
Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al.
Journal article
Editorial: Intracellular Mechanisms of α-Synuclein Processing. (2021)
Zunke F, Winner B, Richter F, Caraveo G
Journal article, Editorial
STAT1 coordinates intestinal epithelial cell death during gastrointestinal infection upstream of Caspase-8 (2021)
Stolzer I, Schickedanz L, Chiriac MT, López-Posadas R, Grassl GA, Mattner J, Wirtz S, et al.
Journal article
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