Lehrstuhl für Humangenetik


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

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