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Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Suicide risk assessment and risk formulation part II: Suicide risk formulation and the determination of levels of risk.
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet. 2003 Jun; 40(6):441-6.
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subject areas
Adolescent
Brain
Cerebellum
Chromosomes, Human, X
Cytoskeletal Proteins
Dosage Compensation, Genetic
Female
Genetic Linkage
GTPase-Activating Proteins
Heterozygote
Humans
Intellectual Disability
Magnetic Resonance Imaging
Male
Mutation
Nuclear Proteins
Pedigree
Phosphoproteins
authors with profiles
William B. Dobyns