Université de Bourgogne (uB) / University of Burgundy / University of Dijon
University / College
Location:
Dijon,
France (FR)
ISNI: 0000000122989313
ROR: https://ror.org/03k1bsr36
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024)
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al.
Journal article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024)
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, 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
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022)
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al.
Journal article
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020)
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al.
Journal article
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018)
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al.
Journal article