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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Evaluation of short message service and peer navigation to improve engagement in HIV care in South Africa: study protocol for a three-arm cluster randomized controlled trial.
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
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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