Search Results - "Khalaf, Tamam E"
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17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report
Published in BMC medical genetics (25-10-2017)“…Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and…”
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Journal Article -
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Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia
Published in Blood cells, molecules, & diseases (01-06-2017)“…Glutathione (gamma-glutamylcysteinylglycine) has diverse functions including free radicals scavenging and modulating many critical cellular processes…”
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Journal Article