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The genetic architecture of gene expression levels in wild baboons.
Myosin-binding protein H-like regulates myosin-binding protein distribution and function in atrial cardiomyocytes.
Microlissencephaly: a heterogeneous malformation of cortical development.
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 10; 170(10):2644-51.
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PubMed
subject areas
Abnormalities, Multiple
Actins
Biomarkers
Brain
Child, Preschool
Craniofacial Abnormalities
DNA Mutational Analysis
Exome
Facies
Female
Genetic Association Studies
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation, Missense
Phenotype
authors with profiles
William B. Dobyns