Semantic Scholar uses AI to extract papers important to this topic.
Significance UBE3B is a ubiquitin ligase disrupted in severe neurodevelopmental diseases (NDDs). Mechanistic studies on the… Expand Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman… Expand The “blepharophimosis‐mental retardation” syndromes (BMRS) consist of a group of clinically and genetically heterogeneous… Expand Schizophrenia is a neurodevelopmental disorder with the typical age of onset of overt symptoms and deficits occurring during late… Expand Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies… Expand A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with… Expand Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as… Expand Background Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly… Expand The degradation of myofibrillar proteins during meat maturation affects the water holding capacity (WHC) of meat. Our study… Expand Differential gene expression forms the basis for development, differentiation, regeneration, and plasticity of tissues and organs… Expand