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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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Book chapter / Article in edited volumes
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024)
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al.
Journal article
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (2023)
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, et al.
Journal article
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study (2022)
Popp B, Ekici AB, Knaup K, Schneider K, Uebe S, Park J, Bafna V, et al.
Journal article
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome (2022)
Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, et al.
Journal article
SRD5A3-CDG: Twins with an intragenic tandem duplication (2022)
Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al.
Journal article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Conference contribution
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021)
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al.
Journal article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Journal article
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021)
Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al.
Journal article
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021)
Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al.
Journal article
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