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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Proposed criteria for referral and evaluation of children for epilepsy surgery: recommendations of the Subcommission for Pediatric Epilepsy Surgery.
MTAP immunohistochemistry is an accurate and reproducible surrogate for CDKN2A fluorescence in situ hybridization in diagnosis of malignant pleural mesothelioma.
Histopathology of BALB/c mice infected with the D variant of encephalomyocarditis virus.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364.
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PubMed
subject areas
Brain
Classical Lissencephalies and Subcortical Band Heterotopias
DNA Mutational Analysis
Female
Genetic Association Studies
Humans
Lissencephaly
Male
Mutation
authors with profiles
William B. Dobyns
Sarah Collins