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Dr. med. Bernt Popp
List of publications:
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Institute of Human Genetics
Lehrstuhl für Humangenetik
Publications
(40)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Authored book
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Translation
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Thesis
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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
Breast MRI texture analysis for prediction of BRCA-associated genetic risk (2020)
Vasileiou G, Costa MJ, Long C, Wetzler I, Hoyer J, Kraus C, Popp B, et al.
Journal article
Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy (2020)
Hannan S, Affandi AHB, Minere M, Jones C, Goh P, Warnes G, Popp B, et al.
Journal article
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function (2020)
Rice G, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, et al.
Journal article
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020)
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al.
Journal article
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants (2020)
Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, et al.
Journal article
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019)
Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al.
Journal article
Exploring the phenotypical spectrum of BRD4 defects (2019)
Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, et al.
Conference contribution
Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome (2019)
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al.
Conference contribution
Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019)
Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al.
Conference contribution
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