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Dr. med. Katalin Blum
List of publications:
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Institute of Human Genetics
Publications
(5)
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Journal article
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Book chapter / Article in edited volumes
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Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? (2023)
Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U
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
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder (2021)
Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C
Journal article
A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020)
Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C
Conference contribution
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 (2020)
Hetzelt K, Kraus C, Kusnik S, Thiel C, Uebe S, Ekici AB, Trollmann R, et al.
Journal article