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Capucine Hyon et al.
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Anshul Kundaje et al.
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Annalisa Vetro et al.
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GT-Scan: identifying unique genomic targets
Aidan O'Brien et al.
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A piggyBac Transposon- and Gateway-enhanced System for Efficient BAC Transgenesis
Liang Zhao et al.
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JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles
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Bing Xiao et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
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Le Cong et al.
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Novel PCR Assay for Determining the Genetic Sex of Mice
L. McFarlane et al.
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Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
Jian Ye et al.
BMC BIOINFORMATICS (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
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Annalisa Vetro et al.
JOURNAL OF MEDICAL GENETICS (2011)
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Sabina Benko et al.
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Mapping and analysis of chromatin state dynamics in nine human cell types
Jason Ernst et al.
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James J. Cox et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
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Josephine Bowles et al.
DEVELOPMENTAL CELL (2010)
Histone H3K27ac separates active from poised enhancers and predicts developmental state
Menno P. Creyghton et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis
I. Georg et al.
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Brenda Houmard et al.
BIOLOGY OF REPRODUCTION (2009)
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Ryohei Sekido et al.
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D Schmidt et al.
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Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
M Uda et al.
HUMAN MOLECULAR GENETICS (2004)
The human genome browser at UCSC
WJ Kent et al.
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Sox9 induces testis development in XX transgenic mice
VPI Vidal et al.
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A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse
CE Bishop et al.
NATURE GENETICS (2000)
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
NA Hanley et al.
MECHANISMS OF DEVELOPMENT (2000)
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