Výsledky vyhledávání - Vivek Dhir
- Zobrazuji výsledky 1 - 12 z 12
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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 Autor Jan Idkowiak, Tabitha Randell, Vivek Dhir, Pushpa Patel, Cedric Shackleton, Norman Taylor, Nils Krone, Wiebke Arlt
Vydáno 2011Artigo -
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A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism Autor Nicole Reisch, Wolfgang Högler, Silvia Parajes, Ian T. Rose, Vivek Dhir, Joachim Götzinger, Wiebke Arlt, Nils Krone
Vydáno 2013Artigo -
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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) Autor Silvia Parajes, Clemens Kamrath, Ian T. Rose, Angela E. Taylor, Christiaan F. Mooij, Vivek Dhir, Joachim Grötzinger, Wiebke Arlt, Nils Krone
Vydáno 2011Artigo -
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Alternative pathway androgen biosynthesis and human fetal female virilization Autor Nicole Reisch, Angela E. Taylor, Edson Nogueira, Daniel J. Asby, Vivek Dhir, Andrew Berry, Nils Krone, Richard J. Auchus, Cedric Shackleton, Neil A. Hanley, Wiebke Arlt
Vydáno 2019Artigo -
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Inactivating<i>PAPSS2</i>Mutations in a Patient with Premature Pubarche Autor C. Noordam, Vivek Dhir, Joanne McNelis, Florian Schlereth, Neil A. Hanley, Nils Krone, Jan Smeitink, Roel Smeets, Fred C.G.J. Sweep, Hedi L. Claahsen‐van der Grinten, Wiebke Arlt
Vydáno 2009Artigo -
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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency Autor 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
Vydáno 2013Artigo -
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SIMBA: Online Simulation for Teaching Medical Cases to Preclinical Students—A Pilot Study Autor 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
Vydáno 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 Autor 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
Vydáno 2010Artigo -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Autor 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
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
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