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Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 12, 2019
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite JewsM Weisz-Hubshman, H Meirson, R Michaelson-Cohen, et al.
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