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Clinical nosologic and genetic aspects of Joubert and related syndromes.
The mitochondrion--an organelle commonly involved in programmed cell death in Arabidopsis thaliana.
Loss of Nix in Pdx1-deficient mice prevents apoptotic and necrotic ß cell death and diabetes.
Swallowing dysfunction--preventative and rehabilitation strategies in patients with head-and-neck cancers treated with surgery, radiotherapy, and chemotherapy: a critical review.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A. 2011 Apr; 155A(4):706-16.
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PubMed
subject areas
Adolescent
Adult
Brain
Child
Child, Preschool
Costello Syndrome
Face
Female
Heart Defects, Congenital
Humans
Infant
Magnetic Resonance Imaging
Male
Musculoskeletal Abnormalities
Mutation
Neoplasms
Phenotype
Pregnancy
Proto-Oncogene Proteins p21(ras)
Young Adult
authors with profiles
William B. Dobyns