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R Harley

Showing results (201-210 of 214) with videos related to

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European Journal of Human Genetics : EJHG|August 8, 2014
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1Stefanie Eggers, Katherine R Smith, Melanie Bahlo, et al.
Human Molecular Genetics|September 13, 2015
FGFR2 mutation in 46,XY sex reversal with craniosynostosisStefan Bagheri-Fam, Makoto Ono, Li Li, et al.
Human Mutation|August 2, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancerRajini Sreenivasan, Louisa Ludbrook, Brett Fisher, et al.
European Journal of Human Genetics : EJHG|June 11, 2009
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastomaRemko Hersmus, Bertie H C G M de Leeuw, Hans Stoop, et al.
Biology of Reproduction|July 12, 2013
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiationElanor N Wainwright, Joan S Jorgensen, Youngha Kim, et al.
Cell|March 7, 2020
Repopulating Microglia Promote Brain Repair in an IL-6-Dependent MannerEmily F Willis, Kelli P A MacDonald, Quan H Nguyen, et al.
Nucleic Acids Research|May 5, 2017
In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signaturesMassilva Rahmoun, Rowena Lavery, Sabine Laurent-Chaballier, et al.
Clinical Genetics|November 9, 2022
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determinationBrittany Croft, Anthony D Bird, Makoto Ono, et al.
Plos One|March 8, 2013
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental diseaseGeorgina Caruana, Peter G Farlie, Adam H Hart, et al.
Plos One|July 21, 2012
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutationRemko Hersmus, Yvonne G van der Zwan, Hans Stoop, et al.
Pageof 22

Showing results (201-210 of 214) with videos related to

Sort By:
Pageof 22
European Journal of Human Genetics : EJHG|August 8, 2014
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1Stefanie Eggers, Katherine R Smith, Melanie Bahlo, et al.
Human Molecular Genetics|September 13, 2015
FGFR2 mutation in 46,XY sex reversal with craniosynostosisStefan Bagheri-Fam, Makoto Ono, Li Li, et al.
Human Mutation|August 2, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancerRajini Sreenivasan, Louisa Ludbrook, Brett Fisher, et al.
European Journal of Human Genetics : EJHG|June 11, 2009
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastomaRemko Hersmus, Bertie H C G M de Leeuw, Hans Stoop, et al.
Biology of Reproduction|July 12, 2013
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiationElanor N Wainwright, Joan S Jorgensen, Youngha Kim, et al.
Cell|March 7, 2020
Repopulating Microglia Promote Brain Repair in an IL-6-Dependent MannerEmily F Willis, Kelli P A MacDonald, Quan H Nguyen, et al.
Nucleic Acids Research|May 5, 2017
In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signaturesMassilva Rahmoun, Rowena Lavery, Sabine Laurent-Chaballier, et al.
Clinical Genetics|November 9, 2022
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determinationBrittany Croft, Anthony D Bird, Makoto Ono, et al.
Plos One|March 8, 2013
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental diseaseGeorgina Caruana, Peter G Farlie, Adam H Hart, et al.
Plos One|July 21, 2012
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutationRemko Hersmus, Yvonne G van der Zwan, Hans Stoop, et al.
Pageof 22