William Dobyns to Gene Expression Regulation
This is a "connection" page, showing publications William Dobyns has written about Gene Expression Regulation.
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.077
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
Score: 0.033
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Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744.
Score: 0.024
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64.
Score: 0.013