检索结果 - Dhir, Vivek

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X) 由 Parajes, Silvia, Chan, Angel OK, But, W M, Rose, Ian T, Taylor, Angela E, Dhir, Vivek, Arlt, Wiebke, Krone, Nils

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A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency 由 Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke

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COLLAGEN XXVII IS DEVELOPMENTALLY-REGULATED AND FORMS THIN FIBRILLAR STRUCTURES DISTINCT FROM THOSE OF CLASSICAL VERTEBRATE FIBRILLAR COLLAGENS 由 Plumb, Darren A., Dhir, Vivek, Mironov, Aleksandr, Poulsom, Richard, Kadler, Karl E., Thornton, David J., Briggs, Michael D., Boot-Handford, Raymond P.

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The Genus Alternanthera: Phytochemical and Ethnopharmacological Perspectives 由 Singla, Rajeev K., Dhir, Vivek, Madaan, Reecha, Kumar, Deepak, Singh Bola, Simranjit, Bansal, Monika, Kumar, Suresh, Dubey, Ankit Kumar, Singla, Shailja, Shen, Bairong

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Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1 由 Mueller, Jonathan W., Idkowiak, Jan, Gesteira, Tarsis F., Vallet, Cecilia, Hardman, Rebecca, van den Boom, Johannes, Dhir, Vivek, Knauer, Shirley K., Rosta, Edina, Arlt, Wiebke

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Sunitinib Inhibits Cell Proliferation and Alters Steroidogenesis by Down-Regulation of HSD3B2 in Adrenocortical Carcinoma Cells 由 Kroiss, Matthias, Reuss, Miriam, Kühner, Dorothee, Johanssen, Sarah, Beyer, Melanie, Zink, Martina, Hartmann, Michaela F., Dhir, Vivek, Wudy, Stefan A., Arlt, Wiebke, Sbiera, Silviu, Allolio, Bruno, Fassnacht, Martin

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche 由 Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

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Alternative pathway androgen biosynthesis and human fetal female virilization 由 Reisch, Nicole, Taylor, Angela E., Nogueira, Edson F., Asby, Daniel J., Dhir, Vivek, Berry, Andrew, Krone, Nils, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke

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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency 由 Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke

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Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency 由 Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency 由 Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke

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