Хайлтын үр дүнгүүд - Jan Idkowiak

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  1. 1
    Monogenic Disorders of Adrenal Steroidogenesis

    Monogenic Disorders of Adrenal Steroidogenesis -н Elizabeth S. Baranowski, Wiebke Arlt, Jan Idkowiak

    Хэвлэсэн 2018
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  2. 2
    The Regulation of Steroid Action by Sulfation and Desulfation

    The Regulation of Steroid Action by Sulfation and Desulfation -н Jonathan Wolf Mueller, Lorna C Gilligan, Jan Idkowiak, Wiebke Arlt, Paul Foster

    Хэвлэсэн 2015
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  3. 3
    Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis

    Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis -н Ramona Jühlen, Jan Idkowiak, Angela E. Taylor, Barbara Kind, Wiebke Arlt, Angela Huebner, Katrin Koehler

    Хэвлэсэн 2015
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    Artigo
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  4. 4
    Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

    Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome -н Laura Torchen, Jan Idkowiak, Naomi Fogel, Donna O’Neil, Cedric Shackleton, Wiebke Arlt, Andrea Dunaif

    Хэвлэсэн 2016
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    Artigo
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  5. 5
    A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

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

    Хэвлэсэн 2011
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    Artigo
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  6. 6
    Premature adrenarche: novel lessons from early onset androgen excess

    Premature adrenarche: novel lessons from early onset androgen excess -н Jan Idkowiak, Gareth G. Lavery, Vivek Dhir, Timothy Barrett, Paul M. Stewart, Nils Krone, Wiebke Arlt

    Хэвлэсэн 2011
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  7. 7
    Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women

    Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women -н Yasir Elhassan, Jan Idkowiak, Karen Smith, Miriam Asia, Helena Gleeson, Rachel Webster, Wiebke Arlt, Michael O’Reilly

    Хэвлэсэн 2018
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    Artigo
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  8. 8
    ISPAD Annual Conference 2017 Highlights

    ISPAD Annual Conference 2017 Highlights -н Juliana Chizo Agwu, Jan Idkowiak, Laura N. Bull, Sze May Ng, Klemen Dovč, Ursula Ngwu, Luís Eduardo Calliari, David M. Maahs

    Хэвлэсэн 2018
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    Artigo
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  9. 9
    Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

    Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism -н 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

    Хэвлэсэн 2019
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    Artigo
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  10. 10
    Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

    Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty -н 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

    Хэвлэсэн 2016
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    Artigo
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  11. 11
    Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

    Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency -н 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

    Хэвлэсэн 2013
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    Artigo
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  12. 12
    Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency -н 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

    Хэвлэсэн 2010
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    Artigo
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  13. 13
    Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling

    Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling -н 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

    Хэвлэсэн 2012
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    Artigo
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  14. 14
    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations -н 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

    Хэвлэсэн 2015
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    Artigo
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  15. 15
    Isosexual precocious pseudopuberty during mitotane treatment in a child with adrenocortical carcinoma: A case report

    Isosexual precocious pseudopuberty during mitotane treatment in a child with adrenocortical carcinoma: A case report -н 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

    Хэвлэсэн 2024
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    Artigo
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  16. 16
    Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

    Insights from the genetic characterization of central precocious puberty associated with multiple anomalies -н 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

    Хэвлэсэн 2020
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    Artigo
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  17. 17
    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency -н 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

    Хэвлэсэн 2011
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    Artigo
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