Որոնման արդյունքները - Jan Idkowiak
- Ցուցադրվում են 1 - 17 արդյունքները 17
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Monogenic Disorders of Adrenal Steroidogenesis Elizabeth S. Baranowski, Wiebke Arlt, Jan Idkowiak
Հրապարակվել է 2018Revisão -
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Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome Laura Torchen, Jan Idkowiak, Naomi Fogel, Donna O’Neil, Cedric Shackleton, Wiebke Arlt, Andrea Dunaif
Հրապարակվել է 2016Artigo -
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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 Jan Idkowiak, Tabitha Randell, Vivek Dhir, Pushpa Patel, Cedric Shackleton, Norman Taylor, Nils Krone, Wiebke Arlt
Հրապարակվել է 2011Artigo -
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ISPAD Annual Conference 2017 Highlights Juliana Chizo Agwu, Jan Idkowiak, Laura N. Bull, Sze May Ng, Klemen Dovč, Ursula Ngwu, Luís Eduardo Calliari, David M. Maahs
Հրապարակվել է 2018Artigo -
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Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism Karl‐Heinz Storbeck, Lina Schiffer, Elizabeth S. Baranowski, Vasileios Chortis, Alessandro Prete, Lise Barnard, Lorna C Gilligan, Angela E. Taylor, Jan Idkowiak, Wiebke Arlt, Cedric Shackleton
Հրապարակվել է 2019Artigo -
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Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty Jan Idkowiak, Angela E. Taylor, Sandra Subtil, Donna O’Neil, Raymon Vijzelaar, Renuka Dias, Rakesh Amin, Timothy Barrett, Cedric Shackleton, Jeremy Kirk, Celia Moss, Wiebke Arlt
Հրապարակվել է 2016Artigo -
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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency 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
Հրապարակվել է 2013Artigo -
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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Jan Idkowiak, Stephen O’Riordan, Nicole Reisch, E Małunowicz, Felicity Collins, Michiel N. Kerstens, Birgit Köhler, Luitgard Graul‐Neumann, Maria Szarras‐Czapnik, Mehul Dattani, Martin Silink, Cedric Shackleton, Dominique Maiter, Nils Krone, Wiebke Arlt
Հրապարակվել է 2010Artigo -
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Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling Gareth G. Lavery, Jan Idkowiak, Mark Sherlock, Iwona Bujalska, J.P. Ride, Khalid M. Saqib, Michaela F. Hartmann, Beverly Hughes, Stefan A. Wudy, Jean De Schepper, Wiebke Arlt, Nils Krone, C.H.L. Shackleton, Elizabeth A. Walker, Paul M. Stewart
Հրապարակվել է 2012Artigo -
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PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations Wilma Oostdijk, Jan Idkowiak, Jonathan Wolf Mueller, Philip J House, Angela E. Taylor, Michael O’Reilly, Beverly Hughes, Martine C. de Vries, Sarina G. Kant, Gijs W.E. Santen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Jan M. Wit, Monique Losekoot, Wiebke Arlt
Հրապարակվել է 2015Artigo -
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Isosexual precocious pseudopuberty during mitotane treatment in a child with adrenocortical carcinoma: A case report Maria Riedmeier, Sonir Roberto Rauber Antonini, Clemens Benoit, Cheri Deal, Martin Faßnacht, Bonald C. Figueiredo, E. Nazlı Gönç, Christoph Härtel, Jan Idkowiak, Max Kurlbaum, Ronald R. de Krijger, Raul C. Ribeiro, Jaydira Del Rivero, Paul‐Gerhardt Schlegel, Lester D.�R. Thompson, Bilgehan Yalçın, Verena Wiegering
Հրապարակվել է 2024Artigo -
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Insights from the genetic characterization of central precocious puberty associated with multiple anomalies Ana Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, Silvia Souza da Costa, Carla Rosenberg, Virginie Steunou, Marie‐Laure Sobrier, Lucas Santos de Santana, Rachel Sayuri Honjo, Chong Ae Kim, Francis de Zegher, Jan Idkowiak, Lorna C Gilligan, Wiebke Arlt, Mariana Ferreira de Assis Funari, Alexander A.L. Jorge, Berenice B. Mendonça, Irène Netchine, Vinícius Nahime Brito, Ana Cláudia Latronico
Հրապարակվել է 2020Artigo -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency 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
Հրապարակվել է 2011Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Endocrinology
Medicine
Internal medicine
Biology
Hormone
Androgen
Genetics
Insulin resistance
Gene
Polycystic ovary
Androgen Excess
Biochemistry
Adrenarche
Congenital adrenal hyperplasia
Dehydroepiandrosterone
Dehydroepiandrosterone sulfate
Missense mutation
Steroid
CYP17A1
Chemistry
Insulin
Mutation
Obesity
Precocious puberty
21-Hydroxylase
Adrenal disorder
Adrenal insufficiency
Aromatase
Bioinformatics
Breast cancer