Search Results - Shelly Nielsen
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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency by 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
Published 2013Artigo -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency by 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
Published 2011Artigo
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Biology
Congenital adrenal hyperplasia
Endocrinology
Genetics
Internal medicine
Medicine
21-Hydroxylase
Adrenal insufficiency
Androgen
Androgen Excess
Compound heterozygosity
Diabetes mellitus
Estriol
Estrogen
Exon
Fetus
Gene
Genotype
Hormone
Insulin resistance
Missense mutation
Multiplex ligation-dependent probe amplification
Phenotype
Polycystic ovary
Pregnancy
Virilization