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Dr. Georgia Vasileiou
List of publications:
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Institute of Human Genetics
Publications
(12)
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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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Edited Volume
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Conference contribution
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024)
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al.
Journal article
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024)
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al.
Journal article
Pathogenic PHIP Variants are Variably Associated With CAKUT (2024)
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, et al.
Journal article
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024)
Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al.
Journal article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023)
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al.
Journal article
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review (2023)
Al-Kateb H, Au PY, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, et al.
Journal article
Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022)
Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al.
Conference contribution
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022)
Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al.
Journal article
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder (2022)
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, et al.
Journal article
BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021)
Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al.
Journal article
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