检索结果 - Vivek Dhir
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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) 由 Silvia Parajes, Clemens Kamrath, Ian T. Rose, Angela E. Taylor, Christiaan F. Mooij, Vivek Dhir, Joachim Grötzinger, Wiebke Arlt, Nils Krone
出版 2011Artigo -
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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency 由 Nicole Reisch, Jan Idkowiak, Beverly Hughes, Hannah E Ivison, Omar Abdul‐Rahman, Laura G. Hendon, Ann Haskins Olney, Shelly Nielsen, Rachel Harrison, Edward Blair, Vivek Dhir, Nils Krone, Cedric Shackleton, Wiebke Arlt
出版 2013Artigo -
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SIMBA: Online Simulation for Teaching Medical Cases to Preclinical Students—A Pilot Study 由 Aditya Swaminathan, Dengyi Zhou, Isabel Allison, Tamzin Ogiliev, Fatema Rezai, Georgia Morgan, Haaziq Sheikh, Farah Abdelhameed, Harjeet Kaur, Alice Yip, Catherine Cooper, Meri Davitadze, Eka Melson, Paul Foster, Vivek Dhir, Punith Kempegowda
出版 2025Artigo -
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Functional Consequences of Seven Novel Mutations in the<i>CYP11B1</i>Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency 由 Silvia Parajes, Lourdes Loidi, Nicole Reisch, Vivek Dhir, Ian T. Rose, Rainer Hampel, Marcus Quinkler, Gerard S. Conway, Lidia Castro-Feijóo, David Araújo‐Vilar, Manuel Pombo, Fernando Domı́nguez, Emma L. Williams, Trevor Cole, Jeremy Kirk, Elke Kaminsky, Gill Rumsby, Wiebke Arlt, Nils Krone
出版 2010Artigo -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency 由 Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Beverly Hughes, Ian T. Rose, Donna O’Neil, Raymon Vijzelaar, Matthew J. Smith, Fiona MacDonald, Trevor Cole, Nicolai Adolphs, John Barton, Edward Blair, Stephen R. Braddock, Felicity Collins, Deborah Cragun, Mehul Dattani, Ruth Day, Shelley Dougan, Miriam Feist, Michael Gottschalk, John W. Gregory, Michaela Haim, Rachel Harrison, Ann Haskins Olney, Berthold P. Hauffa, Peter C. Hindmarsh, Robert J. Hopkin, Petr Jira, Marlies Kempers, Michiel N. Kerstens, Mohamed M. Khalifa, Birgit Köhler, Dominique Maiter, Shelly Nielsen, Stephen O’Riordan, Christian Roth, Kate Shane-Carson, Martin Silink, Nike Stikkelbroeck, Elizabeth Sweeney, Maria Szarras‐Czapnik, John Waterson, Lori Williamson, Michaela F. Hartmann, Norman Taylor, Stefan A. Wudy, E Małunowicz, Cedric Shackleton, Wiebke Arlt
出版 2011Artigo
相关主题
Internal medicine
Medicine
Endocrinology
Biology
Hormone
Gene
Genetics
Insulin resistance
Polycystic ovary
Androgen
Androgen Excess
Congenital adrenal hyperplasia
Biochemistry
Enzyme
Insulin
Mutation
Steroid
21-Hydroxylase
Adrenarche
Compound heterozygosity
Missense mutation
Phenotype
Steroid 11-beta-hydroxylase
Virilization
Adrenal insufficiency
CYP17A1
Dehydroepiandrosterone
Dehydroepiandrosterone sulfate
Fetus
Genotype