Kết quả tìm kiếm - Jan Idkowiak
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1
Monogenic Disorders of Adrenal Steroidogenesis Bằng Elizabeth S. Baranowski, Wiebke Arlt, Jan Idkowiak
Được phát hành 2018Revisão -
2
The Regulation of Steroid Action by Sulfation and Desulfation Bằng Jonathan Wolf Mueller, Lorna C Gilligan, Jan Idkowiak, Wiebke Arlt, Paul Foster
Được phát hành 2015Revisão -
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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 Bằng Jan Idkowiak, Tabitha Randell, Vivek Dhir, Pushpa Patel, Cedric Shackleton, Norman Taylor, Nils Krone, Wiebke Arlt
Được phát hành 2011Artigo -
6
Premature adrenarche: novel lessons from early onset androgen excess Bằng Jan Idkowiak, Gareth G. Lavery, Vivek Dhir, Timothy Barrett, Paul M. Stewart, Nils Krone, Wiebke Arlt
Được phát hành 2011Revisão -
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ISPAD Annual Conference 2017 Highlights Bằng Juliana Chizo Agwu, Jan Idkowiak, Laura N. Bull, Sze May Ng, Klemen Dovč, Ursula Ngwu, Luís Eduardo Calliari, David M. Maahs
Được phát hành 2018Artigo -
9
Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism Bằng 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
Được phát hành 2019Artigo -
10
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty Bằng 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
Được phát hành 2016Artigo -
11
Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency Bằng 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
Được phát hành 2013Artigo -
12
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Bằng 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
Được phát hành 2010Artigo -
13
Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling Bằng 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
Được phát hành 2012Artigo -
14
PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations Bằng 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
Được phát hành 2015Artigo -
15
Isosexual precocious pseudopuberty during mitotane treatment in a child with adrenocortical carcinoma: A case report Bằng 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
Được phát hành 2024Artigo -
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Insights from the genetic characterization of central precocious puberty associated with multiple anomalies Bằng 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
Được phát hành 2020Artigo -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Bằng 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
Được phát hành 2011Artigo
Công cụ tìm kiếm:
Các môn học liên quan
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