William Dobyns to Genetic Carrier Screening
This is a "connection" page, showing publications William Dobyns has written about Genetic Carrier Screening.
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.
Score: 0.069
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Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Ann Neurol. 1998 Apr; 43(4):521-6.
Score: 0.040
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Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord. 1996 Mar; 11(2):151-6.
Score: 0.035
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Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res. 2009 Dec; 2(6):359-64.
Score: 0.022