William Dobyns to Facies
This is a "connection" page, showing publications William Dobyns has written about Facies.
Connection Strength
0.680
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Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov; 35(11):920-3.
Score: 0.170
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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: 0.144
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Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003 Dec; 34(6):287-92.
Score: 0.060
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Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356.
Score: 0.045
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
Score: 0.037
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 10; 170(10):2644-51.
Score: 0.036
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A. 2014 Nov; 164A(11):2879-86.
Score: 0.032
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar; 23(3):292-301.
Score: 0.032
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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014 Jan; 164A(1):120-8.
Score: 0.030
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93.
Score: 0.030
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A. 2011 Dec; 155A(12):3035-41.
Score: 0.026
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Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A. 2010 Jul; 152A(7):1621-6.
Score: 0.024
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Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
Score: 0.015