William Dobyns to Diagnostic Imaging
This is a "connection" page, showing publications William Dobyns has written about Diagnostic Imaging.
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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47.
Score: 0.105
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Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7):710-26.
Score: 0.091
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A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012 May; 135(Pt 5):1348-69.
Score: 0.078
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A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87.
Score: 0.050
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36.
Score: 0.028
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Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 01; 5(5):a022392.
Score: 0.024
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Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90.
Score: 0.022
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb; 149A(2):129-37.
Score: 0.016
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A classification scheme for malformations of cortical development. Neuropediatrics. 1996 Apr; 27(2):59-63.
Score: 0.006