William Dobyns to Face
This is a "connection" page, showing publications William Dobyns has written about Face.
Connection Strength
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Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744.
Score: 0.041
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Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet. 1991 Oct; 49(4):707-14.
Score: 0.024
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A. 2011 Apr; 155A(4):706-16.
Score: 0.023
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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet. 1985 Sep; 22(1):125-34.
Score: 0.016
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Further comments on the lissencephaly syndromes. Am J Med Genet. 1985 Sep; 22(1):197-211.
Score: 0.016
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 1997 Feb; 6(2):147-55.
Score: 0.009
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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: 0.009
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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet. 1986 Apr; 23(4):869-901.
Score: 0.004
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Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet. 1986 Apr; 23(4):853-9.
Score: 0.004