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Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
Quantitative evaluation of global and regional left ventricular diastolic function with color kinesis.
A myosin II mutation uncouples ATPase activity from motility and shortens step size.
Objective evaluation of regional left ventricular wall motion during dobutamine stress echocardiographic studies using segmental analysis of color kinesis images.
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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PubMed
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