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Haploinsufficiency / Ring 18 / Human genome / Gene / Mutation / UCSC Genome Browser / Copy-number variation / Deletion / Distal 18q- / Biology / Genetics / Philosophy of biology


ARTICLE A gene dosage map of Chromosome 18: A map with clinical utility Jannine D. Cody, PhD, Erika M. Carter, BS, Courtney Sebold, MS, Patricia L. Heard, BS, and Daniel E. Hale, MD
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Document Date: 2010-05-06 10:05:35

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File Size: 562,54 KB

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City

Arhus / San Antonio / /

Country

Denmark / /

Currency

pence / /

/

Facility

UT Health Science Center / University of California Santa Cruz / clinic Genetics IN Medicine / Frederic C. Bartter General Clinical Research Center / /

IndustryTerm

gene products / /

MedicalCondition

Locus Gene symbol Gene name OMIM Disorder / several single-gene disorders / tumors / disease / Juvenile polyposis/hereditary / intermittent hyperventilation / Charcot-Marie-Tooth disease / hereditary neuropathy / holoprosencephaly / Arrhythmogenic right ventricular dysplasia / growth hormone deficiency / pressure palsy / diseases / syndromal mental retardation / Pitt-Hopkins syndrome / PittHopkins syndrome / hyperventilation / hemorrhagic telangiectasia syndrome / MS / syndrome / Pancreatic cancer / recessive diseases / /

Organization

MacDonald / National Institute of Health / University of California Santa Cruz / Registry & Research Society / UT Health Science Center / Frederic C. Bartter General Clinical Research Center / Department of Pediatrics / JDC / /

Person

Daniel E. Hale / D. Cody / Courtney Sebold / David V. Holoprosencephaly / Patricia L. Heard / Erika M. Carter / Jannine D. Cody / /

Position

researcher / /

ProgrammingLanguage

HTML / /

ProvinceOrState

Texas / /

PublishedMedium

Lippincott Williams & Wilkins / /

Technology

DNA Chip / hybridization / http / genotype / HTML / human genome / PDF / Microarray technology / /

URL

www.genome.ucsc.edu).5 / www.geneticsinmedicine.org / http /

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