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European Journal of Human Genetics (2014), 1–8 & 2014 Macmillan Publishers Limited All rights reserved[removed]www.nature.com/ejhg ARTICLE
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Document Date: 2014-08-06 08:45:26


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City

Santa Clara / Rockville / Semarang / Santa Barbara / Ma¨nnedorf / Rotterdam / Pittsburgh / Melbourne / Rotkreuz / San Diego / /

Company

OriGene Technologies Inc. / Illumina Inc. / Sigma-Aldrich / Roche Diagnostics Pty Ltd / Affymetrix / Thermo Fisher Scientific Inc. / Bio-Rad Laboratories / Agilent Technologies Inc. / Promega Corporation / Creative Commons / GE Healthcare / Helen Macpherson Smith Trust / Macmillan Publishers Limited / /

Country

Switzerland / Netherlands / Indonesia / United States / Australia / /

Currency

pence / /

/

Event

FDA Phase / Natural Disaster / Product Issues / /

Facility

Research Institute / Castle Hill / Murdoch Children’s Research Institute / Erasmus MC-University Medical Center / Sophia Children’s Hospital / Australian Genome Research Facility / Josephine Nefkens Institute / Royal Children’s Hospital / Henry’s Institute of Medical Research / University of Queensland / terminal DDK / Diponegoro University / Eliza Hall Institute of Medical Research / Medicine Diponegoro University / The University of Melbourne / /

IndustryTerm

comparative modelling server / exome search space / online protein / search area / advance online publication / /

MedicalCondition

hypospadias / human cDNA ORF / Mendelian diseases / gonadal dysgenesis / gynaecomastia / severe penoscrotal hypospadias / MS / infertility / autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy / disease / complete gonadal dysgenesis / severe scrotal hypospadias / XY disorder / primary infertility / XY gonadal dysgenesis / intersex disorders / XX gonadal dysgenesis / pure gonadal dysgenesis / partial gonadal dysgenesis / INTRODUCTION Disorders / syndrome / Disorders / /

MedicalTreatment

plastic surgery / counselling / /

MusicGroup

anti-FLAG / /

NaturalFeature

Castle Hill / /

Organization

Royal Children’s Hospital / Victorian Government / Center for Biomedical Research in Semarang / Faculty of Medicine / Human Ethics Committee / Biomedical Research Faculty / Division of Pediatric Endocrinology / Australian Government / Australian Research Council / 3The Walter and Eliza Hall Institute of Medical Research / Ian Potter Centre for Personalised Genomics / Sophia Children’s Hospital Rotterdam / Murdoch Children’s Research Institute / Australian National Health and Medical Research Council / Josephine Nefkens Institute / University of Queensland / Brisbane / 1Murdoch Children’s Research Institute / Medicine Diponegoro University / Erasmus MC-University Medical Center Rotterdam / Diponegoro University / Semarang / University of Melbourne / Melbourne / Pratt Foundation / Department of Innovation / Industry / Science and Research / 9Prince Henry’s Institute of Medical Research / /

Person

Craig Smith / Andrew H Sinclair / Correspondence / Sophia Children / /

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Position

RT / Dual-luciferase reporter / Professor / reporter / /

Product

SAMtools / testosterone / adenosine / MERLIN20 / nr5a1 / /

ProvinceOrState

Queensland / Victoria / Utah / /

PublishedMedium

European Journal of Human Genetics / /

Region

northern Europe / western Europe / /

Technology

Genomics / Bioinformatics / electrophoresis / antibodies / directed mutagenesis / cloning / genotyping / DSD / gene expression / DNA sequencing / http / SNP / genotype / SIFT algorithm / /

URL

www.LOVD.nl/NR5A1 / http /

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