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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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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
Expanding the spectrum of WDR62 mutations : description of new cases (2020)
Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al.
Conference contribution
SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders (2020)
Fliedner A, Kirchner P, Agre KE, De Graaf-Van De Laar I, Clarke MD, Davis-Keppen L, Ekici AB, et al.
Conference contribution
Common RUNX3 missense variant contributes to psoriatic arthritis by affecting splicing and modifying signaling, activation and differentiation of T-cells (2020)
Hüffmeier U, Löhr S, Uebe S, Popp B, Bowes J, Kirchner P, Giardina E, et al.
Conference contribution
Exome Pool-Seq Reloaded (2020)
Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al.
Conference contribution
Phenotypic presentation of two additional individuals with heterozygous variants in BRSK2 (2020)
Kemmer H, Popp B, Verloes A, Horn D, Holtgrewe M, Zweier C, Ehmke N
Conference contribution
Investigating PHF13 induced infertility through single cell transcriptomics and non-vertebrate model organisms (2020)
Bosch E, Lukassen S, Gregor A, Ekici AB, Zweier C, Winterpacht A
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
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