William Dobyns to Lymphocytes
This is a "connection" page, showing publications William Dobyns has written about Lymphocytes.
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.
Score: 0.059
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39.
Score: 0.026
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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: 0.013
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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81.
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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet. 1986 Jul; 24(3):421-32.
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