Clinical Genetics
Journal Abbreviation: CLIN GENET
ISSN: 0009-9163
Publisher: Wiley-Blackwell
Publications (13)
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
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
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
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6 (2022)
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, et al.
Journal article
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder (2021)
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, et al.
Journal article
Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Journal article
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum (2020)
Foehrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, et al.
Journal article
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO-TECT Alport trial (2020)
Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, et al.
Journal article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020)
Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, et al.
Journal article
Skeletal abnormalities are common features in Ayme-Gripp syndrome (2019)
Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, et al.
Journal article