検索結果 - Mariarosaria Lang‐Muritano

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  1. 1
    Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

    Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) 著者: Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosaria Lang‐Muritano, Joanna Walker, John C. Achermann, Walter L. Miller

    出版事項 2010
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  2. 2
    Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)

    Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2) 著者: Mariarosaria Lang‐Muritano, Patrick Sproll, Sascha Wyss, Anne Kolly, Renate Hürlimann, Daniel Konrad, Anna Biason‐Lauber

    出版事項 2018
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  3. 3
    Children With Congenital Hypothyroidism: Long-Term Intellectual Outcome After Early High-Dose Treatment

    Children With Congenital Hypothyroidism: Long-Term Intellectual Outcome After Early High-Dose Treatment 著者: Anastasia Dimitropoulos, Luciano Molinari, Katharina Etter, Toni Torresani, Mariarosaria Lang‐Muritano, Oskar G. Jenni, R. H. Largo, Beatrice Latal

    出版事項 2009
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  4. 4
    Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade

    Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade 著者: Ε. Schoenle, Mariarosaria Lang‐Muritano, Sylvia Gschwend, J Laimbacher, Primus E. Mullis, Toni Torresani, Anna Biason‐Lauber, Luciano Molinari

    出版事項 2001
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  5. 5
    P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

    P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients 著者: 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

    出版事項 2006
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  6. 6
    <i>GNRH1</i> mutations in patients with idiopathic hypogonadotropic hypogonadism

    <i>GNRH1</i> mutations in patients with idiopathic hypogonadotropic hypogonadism 著者: Yee-Ming Chan, Adelaide de Guillebon, Mariarosaria Lang‐Muritano, Lacey Plummer, Felecia Cerrato, Sarah Tsiaras, Ariana Gaspert, Hélène B. Lavoie, Ching-Hui Wu, William F. Crowley, John K. Amory, Nelly Pitteloud, Stephanie B. Seminara

    出版事項 2009
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  7. 7
    When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (<i>GNRHR</i>)

    When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (<i>GNRHR</i>) 著者: Elena Gianetti, Janet E. Hall, Margaret Au, Ursula B. Kaiser, Richard Quinton, Jane A. Stewart, Daniel L. Metzger, Nelly Pitteloud, Verónica Mericq, Paulina M. Merino, Lynne L. Levitsky, Louise Izatt, Mariarosaria Lang‐Muritano, Victor Y. Fujimoto, Robert G. Dluhy, Matthew Chase, William F. Crowley, Lacey Plummer, Stephanie B. Seminara

    出版事項 2012
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  8. 8
    DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

    DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development 著者: Justine Bouilly, Andrea Messina, Georgios Papadakis, Daniele Cassatella, Cheng Xu, James S. Acierno, Brooke Tata, Gerasimos P. Sykiotis, Sara Santini, Yisrael Sidis, Églantine Elowe-Gruau, Franziska Phan-Hug, Michael Hauschild, Pierre‐Marc Bouloux, Richard Quinton, Mariarosaria Lang‐Muritano, Lucie Favre, Laura Marino, Paolo Giacobini, Andrew Dwyer, Nicolas J. Niederländer, Nelly Pitteloud

    出版事項 2017
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  9. 9
    <i>NOS1</i> mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

    <i>NOS1</i> mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice 著者: Konstantina Chachlaki, Andrea Messina, Virginia Delli, Valérie Leysen, Csilla Maurnyi, Chieko Huber, Gaëtan Ternier, Katalin Skrapits, Georgios Papadakis, Sonal Shruti, Maria Kapanidou, Cheng Xu, James S. Acierno, Jesse Rademaker, Sowmyalakshmí Rasika, Richard Quinton, Marek Niedziela, Dagmar l’Allemand, Duarte Pignatelli, Mirjam Dirlewander, Mariarosaria Lang‐Muritano, Patrick Kempf, Sophie Catteau-Jonard, Nicolas J. Niederländer, Philippe Ciofi, Manuel Tena‐Sempere, John Garthwaite, Laurent Storme, Paul Avan, Erik Hrabovszky, Alan Carleton, Federico Santoni, Paolo Giacobini, Nelly Pitteloud, Vincent Prévot

    出版事項 2022
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  10. 10
    Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

    Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype 著者: Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang‐Muritano, Conny M.A. van Ravenswaaij‐Arts, Marwan Shinawi, Marisa V. Andrews, Tania Attié‐Bitach, Isabelle Maystadt, Newell Belnap, Valérie Benoît, Geoffroy Delplancq, Bert B.A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen Mourmans, Katrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica H. Wojcik, Markus Zweier, Or Gozani, Anita Rauch

    出版事項 2021
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  11. 11
    Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

    Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures 著者: Daniele Cassatella, Sasha Howard, James S. Acierno, Cheng Xu, Georgios Papadakis, Federico Santoni, Andrew Dwyer, Sara Santini, Gerasimos P. Sykiotis, Caroline Chambion, J Meylan, Laura Marino, Lucie Favre, Jiankang Li, Xuanzhu Liu, Jianguo Zhang, Pierre‐Marc Bouloux, Christian De Geyter, Anne De Paepe, Waljit S. Dhillo, Jean-Marc Ferrara, Michael Hauschild, Mariarosaria Lang‐Muritano, Johannes R. Lemke, Christa E. Flück, Attila Németh, Franziska Phan-Hug, Duarte Pignatelli, Vera Popović, Sandra Pekić, Richard Quinton, Gabor Szinnai, Dagmar l’Allemand, Daniel Konrad, Saba Sharif, Özlem Turhan İyidir, Brian J. Stevenson, Huanming Yang, Leo Dunkel, Nelly Pitteloud

    出版事項 2018
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