William Dobyns to Family Health
This is a "connection" page, showing publications William Dobyns has written about Family Health.
Connection Strength
0.340
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Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998; 78:335-9.
Score: 0.153
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712.
Score: 0.039
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47.
Score: 0.027
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Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009; 4(2):e4582.
Score: 0.021
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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: 0.021
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The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009 Apr; 46(4):249-53.
Score: 0.020
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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar; 130(Pt 3):828-35.
Score: 0.018
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.017
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
Score: 0.016
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72.
Score: 0.010