Search Results - Anna Biason‐Lauber
- Showing 1 - 20 results of 20
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WNT4, RSPO1, and FOXL2 in Sex Development by Anna Biason‐Lauber
Published 2012Revisão -
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Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study... by Pascal Philibert, Anna Biason‐Lauber, Roman Rouzier, Catherine Pienkowski, Françoise Paris, Daniel Konrad, Eugene Schoenle, Charles Sultan
Published 2008Artigo -
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Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome) by Pascal Philibert, Anna Biason‐Lauber, Iva Gueorguieva, Chantal Stuckens, Catherine Pienkowski, Béatrice Lebon-Labich, Françoise Paris, Charles Sultan
Published 2011Artigo -
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Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade by Ε. Schoenle, Mariarosaria Lang‐Muritano, Sylvia Gschwend, J Laimbacher, Primus E. Mullis, Toni Torresani, Anna Biason‐Lauber, Luciano Molinari
Published 2001Artigo -
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Assembling the jigsaw puzzle: <scp>CBX</scp>2 isoform 2 and its targets in disorders/differences of sex development by Patrick Sproll, Wassim Eid, Camila R. Gomes, Berenice B. Mendonça, Nathália Lisboa Gomes, Elaine Maria Frade Costa, Anna Biason‐Lauber
Published 2018Artigo -
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Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency by Gareth G. Lavery, Elizabeth A. Walker, Ana Tiganescu, Jon P. Ride, Cedric Shackleton, Jeremy Tomlinson, John Connell, David Ray, Anna Biason‐Lauber, E Małunowicz, Wiebke Arlt, Paul M. Stewart
Published 2008Artigo -
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P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients by Stephanie Rosa, Cameron Duff, Monika Meyer, Mariarosaria Lang‐Muritano, Giancarlo Balercia, Marco Boscaro, A. Kemal Topaloğlu, Roberto Mioni, Francesco Fallo, L. Zuliani, Franco Mantero, Ε. Schoenle, Anna Biason‐Lauber
Published 2006Artigo -
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Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes by Anna Biason‐Lauber, Marianne Böni‐Schnetzler, Basil P. Hubbard, Karim Bouzakri, Andrea Brunner, Claudia Cavelti‐Weder, Cornelia Keller, Monika Meyer‐Böni, Daniel T. Meier, Caroline Brorsson, Katharina Timper, Gil Leibowitz, Andrea Patrignani, Rémy Bruggmann, Gino Boily, Henryk Zulewski, Andreas Geier, J Cermák, Peter J. Elliott, James L. Ellis, Christoph Westphal, Urs Knobel, Jyrki J. Eloranta, Julie Kerr‐Conte, François Pattou, Daniel Konrad, Christian M. Matter, A. Fontana, Gerhard Rogler, Ralph Schlapbach, Camille Regairaz, José M. Carballido, Benjamin Gläser, Michael W. McBurney, Flemming Pociot, David Sinclair, Marc Y. Donath
Published 2013Artigo
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Biology
Gene
Genetics
Endocrinology
Medicine
Internal medicine
Hormone
Disorders of sex development
WNT4
Insulin
Insulin resistance
Phenotype
Polycystic ovary
Sexual differentiation
Anti-Müllerian hormone
Transcription factor
Wnt signaling pathway
Androgen
Biochemistry
Gene expression
Hyperandrogenism
Testis determining factor
Y chromosome
Cancer
Computational biology
Context (archaeology)
Diabetes mellitus
Enzyme
Gene isoform
Girl