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ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease
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Document Date: 2013-01-04 11:11:56


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City

Cincinnati / Oklahoma City / Sunderland / Morton / Cleveland / Indianapolis / San Diego / /

Company

Sinauer Associates / Motulsky AG / Cytogenetics Laboratory / T.A.S. / Clark AG / /

Continent

North America / /

Country

Italy / United Arab Emirates / United States / Canada / Palestinian Territories / /

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Event

Person Communication and Meetings / /

Facility

Cincinnati Children’s Hospital Medical Center / University of Miami / American College of Medical Genetics / Cytogenetics Laboratory / Oklahoma University Health Sciences Center / 3University Hospitals Case Medical Center / /

IndustryTerm

magnetic resonance imaging / online version / microarray tool / Array-based technology / microarray technology / abnormal magnetic resonance imaging results / advance online publication / /

MedicalCondition

seizures / developmental delay/mental retardation / developmental disabilities / muscle weakness / recurrent seizure / D-bifunctional protein deficiency / MS / profound hypotonia / lack of coordination / disease / SNP microarray deficiency / intractable neonatal seizures / seizure / profound mental retardation / hypotonia / deficiency / excellent seizure / unspecified disorder / status epilepticus / autosomal recessive disease / /

MedicalTreatment

counseling / /

Organization

NH AA / Catholic Church / National Society of Genetic Counselors / Department of Pediatrics / University of Miami / 3University Hospitals Case Medical Center / Professional Practice and Guidelines Committee / Cincinnati Children’s Hospital Medical Center / Division of Human Genetics / American College of Medical Genetics and Genomics Regions / /

Person

Liming Bao / Coral Gables / Sarah L. Zimmerman / Maia N. Inbreeding / Ann Neurol / Cameron Thomas / Brittany Jones / Teresa A. Smolarek / Lisa J. Martin / Carlos E. Prada / Lauren Grote / Kristen Lipscomb Sund / Ross M. Inbreeding / Anna L. Mitchell / Kristen Sund / /

Position

McKeigue PM / Wilson JF / MP / physician / Adam MP / Genet Counsel / representative / /

Product

FS / /

ProgrammingLanguage

FL / /

ProvinceOrState

Ohio / Wisconsin / Quebec / Oklahoma / Massachusetts / /

PublishedMedium

The American Naturalist / PLoS ONE / /

RadioStation

North Am 2008 / /

Region

Latin America / /

Technology

Genomics / SNP chips / Omni1-Quad chip / genotyping / single nucleotide polymorphism / Array-based technology / magnetic resonance imaging / DNA Chip / SNP / genotype / recombination / microarray technology / /

URL

http /

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