Search Results - "Kneile, Kelley"
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Evidence-based path to newborn screening for duchenne muscular dystrophy
Published in Annals of neurology (01-03-2012)“…Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in…”
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A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics
Published in Molecular genetics & genomic medicine (01-03-2015)“…Limb‐girdle muscular dystrophy type 2C (LGMD2C) is considered one of the severe forms of childhood‐onset muscular dystrophy. The geographical distribution of…”
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Founder Mutation In The γ-Sarcoglycan Gene Causes Milder Phenotype Of Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) in the Hispanic Population of Puerto Rico (S46.002)
Published in Neurology (08-04-2014)“…Abstract only…”
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Abstract 4350: Translating diagnostic gene expression profiles for pediatric solid tumors
Published in Cancer research (Chicago, Ill.) (15-04-2011)“…Abstract BACKGROUND: Features of cancer genomics including gene expression levels can be employed to create biomarker profiles that can predict prior to…”
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