William Dobyns to Point Mutation
This is a "connection" page, showing publications William Dobyns has written about Point Mutation.
Connection Strength
0.308
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The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 Feb; 51 Suppl 1:5-9.
Score: 0.085
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Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003 Jul 22; 61(2):267-76.
Score: 0.054
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.054
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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997 Feb; 6(2):157-64.
Score: 0.035
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PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.
Score: 0.027
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004 Jul 13; 63(1):51-6.
Score: 0.015
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Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Mov Disord. 2004 Jul; 19(7):845-847.
Score: 0.014
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 2003 May; 53(5):596-606.
Score: 0.013
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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53.
Score: 0.010