William Dobyns to Gene Dosage
This is a "connection" page, showing publications William Dobyns has written about Gene Dosage.
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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet. 2011 Dec; 19(12):1238-45.
Score: 0.378
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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Hum Mol Genet. 2008 Nov 15; 17(22):3446-58.
Score: 0.077
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7.
Score: 0.076
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.024
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep; 41(9):1037-42.
Score: 0.021
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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15; 125A(3):293-8.
Score: 0.014