Výsledky vyhledávání - Marco Janner

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  1. 1
    High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes

    High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes Autor Marco Janner, Pietro Ballinari, PE Mullis, C.E. Flück

    Vydáno 2010
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  2. 2
    Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency

    Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency Autor Barbara Räz, Marco Janner, Vibor Petkovic, Didier Lochmatter, Andrée Eblé, Mehul Dattani, Peter C. Hindmarsh, Christa E. Flück, Primus E. Mullis

    Vydáno 2007
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  3. 3
    Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

    Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals Autor Núria Camats, Amit V. Pandey, Mónica Fernández‐Cancio, Pilar Andaluz, Marco Janner, Núria Torán, Flérida Moreno Alcaraz, Abdullah Bereket, Teoman Akçay, Emilio García García, M.T. Muñoz, R Gracia, Manuel Nistal, Luís Castaño, Primus E. Mullis, Antonio Carrascosa, Laura Audí, C.E. Flück

    Vydáno 2012
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  4. 4
    Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

    Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis Autor Debayan Dasgupta, Mark J. Wee, Monica Reyes, Yuwen Li, Peter Simm, Amita Sharma, Karl P. Schlingmann, Marco Janner, Andrew Biggin, Joanna Lazier, Michaela Geßner, Dionisios Chrysis, Shamir Tuchman, H. Jorge Baluarte, Michael A. Levine, Dov Tiosano, Karl Insogna, David A. Hanley, Thomas O. Carpenter, Shoji Ichikawa, Bernd Höppe, Martin Konrad, Lars Sävendahl, Craig Munns, Hang Lee, Harald Jüppner, Clemens Bergwitz

    Vydáno 2014
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  5. 5
    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta Autor Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza‐Meireles, Carolina Moreno, Eugênia Ribeiro Valadares, Sérgio B. Sousa, Sofia Maia, Jorge Saraiva, Rachel Sayuri Honjo, Chong Ae Kim, Hamilton Cabral De Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Débora Romeo Bertola, Bernd Wollnik, Christian Netzer

    Vydáno 2019
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  6. 6
    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1

    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1 Autor Lamisse Mansour‐Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Tréard, Wendy González, Ariela Vergara‐Jaque, Gilles Morin, Estelle Colin, Muriel Holder‐Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane L. Benoit, E. Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, C. Cartery, Gérard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud de la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschênes, Éstelle Desport, Olivier Devuyst, Stella M. Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Arnaud François, Brigitte Gilbert‐Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valériane Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin–Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwénaëlle Roussey-Kesler, Rémi Salomon, Andreas Schleich, A.L. Sellier-Leclerc, Kenza Soulami, A. Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou

    Vydáno 2015
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  7. 7
    Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

    Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study Autor Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, Saygın Abalı, Zehra Yavaş Abalı, S. Faisal Ahmed, Leyla Akın, Maricruz Almaraz, Laura Audí, Murat Aydın, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, María Caimari, Núria Camats, Ariadna Campos-Martorell, Luís Castaño, Anna Casteràs, Semra Çeti̇nkaya, Hedi L. Claahsen‐van der Grinten, Martine Cools, Ines M. Costa, Fatma Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri‐Scallet, Courtney Finlayson, Emilio García García, B. García Cuartero, Alina German, Evgenia Globa, Gil Guerra‐Júnior, Júlio Guerrero, Tülay Güran, Sabine E Hannema, Olaf Hiort, Josephine Hirsch, Ieuan A. Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesińska, Katherine Lachlan, Anna Lauber-Biason, Jana Malíková, Dagmar l’Allemand, Nina Lenhnerr-Taube, Angela K Lucas‐Herald, Jamala Mammadova, Verónica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenström, Burçe Orman, Şükran Poyrazoğlu, Jose M. Rial, Meilan M. Rutter, Amaia Rodrı́guez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, L. Tack, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Małgorzata Waśniewska, David Zangen, Н. Б. Зелінська

    Vydáno 2025
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  8. 8
    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development Autor Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygın Abalı, Zehra Yavaş Abalı, Leyla Akın, Maricruz Almaraz, Laura Audí, Murat Aydın, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, María Caimari, Núria Camats, Ariadna Campos-Martorell, Luís Castaño, Anna Casteràs, Semra Çeti̇nkaya, Yee-Ming Chan, Hedi L. Claahsen‐van der Grinten, Ines M. Costa, Fatma Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri‐Scallet, Courtney Finlayson, Emilio García García, B. García Cuartero, Alina German, Evgenia Globa, Gil Guerra‐Júnior, Júlio Guerrero, Tülay Güran, Sabine E Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesińska, Katherine Lachlan, Anna Lauber-Biason, Jana Malíková, Dagmar l’Allemand, Nina Lenhnerr-Taube, Angela K Lucas‐Herald, Jamala Mammadova, Kenneth MсElreavey, Verónica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenström, Burçe Orman, Şükran Poyrazoğlu, Jose M. Rial, Meilan M. Rutter, Amaia Rodrı́guez, Tara Schafer-Kalkhoff, Kay‐Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Małgorzata Waśniewska, David Zangen, Н. Б. Зелінська

    Vydáno 2024
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