William Dobyns to Karyotyping
This is a "connection" page, showing publications William Dobyns has written about Karyotyping.
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0.272
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54.
Score: 0.081
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New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Am J Med Genet A. 2004 Jan 15; 124A(2):202-8.
Score: 0.059
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Absence makes the search grow longer. Am J Hum Genet. 1996 Jan; 58(1):7-16.
Score: 0.034
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Causal heterogeneity in isolated lissencephaly. Neurology. 1992 Jul; 42(7):1375-88.
Score: 0.027
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.025
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A. 2010 Jun; 152A(6):1488-97.
Score: 0.023
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Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet. 1997 Apr; 6(4):555-62.
Score: 0.009
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet. 1988 Nov; 43(5):587-96.
Score: 0.005
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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.
Score: 0.004
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
Score: 0.004