Search Results - "Turk, Casey"
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Highly parallel oligonucleotide purification and functionalization using reversible chemistry
Published in Nucleic acids research (01-01-2012)“…We have developed a cost-effective, highly parallel method for purification and functionalization of 5′-labeled oligonucleotides. The approach is based on…”
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Paralemmin-1 is over-expressed in estrogen-receptor positive breast cancers
Published in Cancer cell international (10-05-2012)“…Paralemmin-1 is a phosphoprotein lipid-anchored to the cytoplasmic face of membranes where it functions in membrane dynamics, maintenance of cell shape, and…”
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Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing
Published in Nature genetics (01-12-2014)“…Frank Steemers and colleagues report a new method for genome-wide haplotyping based on contiguity-preserving transposition and combinatorial indexing. They…”
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COL18A1 is a candidate eye iridocorneal angle-closure gene in humans
Published in Human molecular genetics (01-11-2018)“…Abstract Primary angle-closure glaucoma (PACG) is a common form of glaucoma in the Far East. Its defining feature is iridocorneal angle closure. In addition to…”
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Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain
Published in Neurobiology of aging (01-02-2016)“…Abstract We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficiency in a consanguineous family with 3 affected siblings…”
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Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction
Published in Movement disorders (01-07-2016)“…ABSTRACT Background We aimed to identify the genetic cause of neurological disease in an Iranian family whose manifestations include symptoms of parkinsonism…”
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Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction: ADORA1 Mutation Associated with Parkinsonism
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Mutation in ST6GALNAC5 identified in family with coronary artery disease
Published in Scientific reports (08-01-2014)“…We aimed to identify the genetic cause of coronary artery disease (CAD) in an Iranian pedigree. Genetic linkage analysis identified three loci with an LOD…”
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