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February 2009

Volume 11Issue 2p79-137

Open Access

Oil painting of HMS Beagle off James Island in the Galapagos, 2:15pm 17 October 1835, by John Chancellor (1925-84). Captain FitzRoy is steadying his telescope against the mast, scanning for signs of Charles Darwin who has been exploring James Island...Show more

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February 2009

Review

Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature

Commentary

Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?

Article

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

Barriers to adopting genomics into public health education: a mixed methods study

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy

ACMG Practice Guidelines

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Letter to the Editor

Multiple myeloma and Gaucher genes

College News

College News

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New at GeneTests