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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
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Publications
(514)
Research Grants
(37)
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Journal article
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (Journal of Molecular Medicine, (2021), 10.1007/s00109-021-02124-9) (2021)
Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al.
Journal article, Erratum
RNA sequencing reveals induction of specific renal inflammatory pathways in a rat model of malignant hypertension (2021)
Menendez-Castro C, Cordasic N, Fahlbusch F, Ekici AB, Kirchner P, Daniel C, Amann KU, et al.
Journal article
Comparison of methods for isolation and quantification of circulating cell-free DNA from patients with endometriosis (2021)
Hübner H, Lubrich H, Blum S, Antoniadis S, Lermann J, Ekici AB, Fasching P, et al.
Journal article
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder (2021)
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, et al.
Journal article
Genome sequencing in families with congenital limb malformations (2021)
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, et al.
Journal article
A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine (2021)
Bach C, Knaup K, Herrmann M, Krumbiegel M, Pfister F, Büttner-Herold M, Steffen M, et al.
Journal article
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021)
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al.
Journal article
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021)
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al.
Journal article
Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany (2021)
Haskamp S, Horowitz J, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, et al.
Journal article
Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Journal article
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