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2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
France
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Transgenic pigs with pancreas-specific expression of green fluorescent protein.
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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