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Keywords: Neurodevelopment
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Journal Articles
Dis Model Mech (2024) 17 (4): dmm050554.
Published: 1 May 2024
... and kinetochores in microcephaly and neurodevelopmental diseases . Cells 9 , 49 . 10.3390/cells9010049 Elkhatib , R. A. , Paci , M. , Boissier , R. , Longepied , G. , Auguste , Y. , Achard , V. , Bourgeois , P. , Levy , N. , Branger , N. , Mitchell , M. J. et...
Journal Articles
Dis Model Mech (2020) 13 (10): dmm045807.
Published: 30 October 2020
...) that is characterized by growth retardation and neurodevelopmental defects, including reports of retinopathy. Mutations in key mediators of the replication stress response, the mutually dependent partners ATR and ATRIP , are among the known causes of Seckel syndrome. However, it remains unclear how their deficiency...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (5): dmm039180.
Published: 13 May 2019
...Mireia Coll-Tané; Alina Krebbers; Anna Castells-Nobau; Christiane Zweier; Annette Schenck ABSTRACT Intellectual disability (ID) and autism spectrum disorders (ASD) are frequently co-occurring neurodevelopmental disorders and affect 2-3% of the population. Rapid advances in exome and genome...