Associated Papers
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom R et al.
Plos Genetics, 2023
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL et al.
Bmc Medical Genomics, 2016
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