William Dobyns to Immunohistochemistry
This is a "connection" page, showing publications William Dobyns has written about Immunohistochemistry.
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Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. Am J Med Genet. 1999 Dec 22; 87(5):440-5.
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. Am J Med Genet A. 2017 Jan; 173(1):245-249.
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De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 02; 96(4):682-90.
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.
Score: 0.022
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Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathol. 2005 Apr; 109(4):400-4.
Score: 0.012
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov; 32(3):359-69.
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43.
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