Ngā hua rapu - Mariarosaria Lang‐Muritano

  • E whakaatu ana i te 1 - 11 hua o te 11
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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) mā Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosaria Lang‐Muritano, Joanna Walker, John C. Achermann, Walter L. Miller

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā Mariarosaria Lang‐Muritano, Patrick Sproll, Sascha Wyss, Anne Kolly, Renate Hürlimann, Daniel Konrad, Anna Biason‐Lauber

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Anastasia Dimitropoulos, Luciano Molinari, Katharina Etter, Toni Torresani, Mariarosaria Lang‐Muritano, Oskar G. Jenni, R. H. Largo, Beatrice Latal

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Ε. Schoenle, Mariarosaria Lang‐Muritano, Sylvia Gschwend, J Laimbacher, Primus E. Mullis, Toni Torresani, Anna Biason‐Lauber, Luciano Molinari

    I whakaputaina 2001
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    Artigo
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  5. 5
    P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

    P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients mā 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

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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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>) mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2021
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    Artigo
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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 mā 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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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