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Dr. rer. nat. Cornelia Kraus
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Institute of Human Genetics
Publications
(27)
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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
PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (2021)
Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, 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
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
Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020)
Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al.
Conference contribution
Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020)
Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al.
Conference contribution
Further clinical and molecular delineation of Alazami syndrome associated with variants in LARP7 (2020)
Gumuslu E, Karaer K, Gumus E, Ekici AB, Kraus C, Reis A
Conference contribution
Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Conference contribution
Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020)
Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al.
Conference contribution
Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020)
Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C
Conference contribution
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