Výsledky vyhledávání - Aurélia Bertholet‐Thomas

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  1. 1
    Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders

    Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubul... Autor Martin Konrad, Tom Nijenhuis, Gema Ariceta, Aurélia Bertholet‐Thomas, Lorenzo A. Calò, Giovambattista Capasso, Francesco Emma, Karl P. Schlingmann, Mandeep Singh, Francesco Trepiccione, Stephen B. Walsh, Kirsty Whitton, Rosa Vargas‐Poussou, Detlef Böckenhauer

    Vydáno 2021
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  2. 2
    Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper

    Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper Autor Justine Bacchetta, Thomas Édouard, Gilles Laverny, Julie Bernardor, Aurélia Bertholet‐Thomas, Mireille Castanet, C. Garnier, Isabelle Gennero, J. Harambat, Alexandre Lapillonne, Arnaud Molin, C. Naud, Jean‐Pierre Salles, Sophie Laborie, Patrick Tounian, Agnès Linglart

    Vydáno 2022
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  3. 3
    Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

    Worldwide view of nephropathic cystinosis: results from a survey from 30 countries Autor Aurélia Bertholet‐Thomas, Julien Berthiller, Velibor Tasić, Behrouz Kassaï, Hasan Otukesh, Marcella Greco, J. H. H. Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos J. Cobeñas, Bülent Hacıhamdioğlu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta

    Vydáno 2017
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  4. 4
    Cystinuria: clinical practice recommendation

    Cystinuria: clinical practice recommendation Autor Aude Servais, Kay Thomas, Luca Dello Strologo, John A. Sayer, Soumeya Bekri, Aurélia Bertholet‐Thomas, Matthew Bultitude, Giovanna Capolongo, Rimantė Čerkauskienė, Michel Daudon, Steeve Doizi, Valentine Gillion, Sílvia Gràcia-Garcia, Jan Halbritter, Laurence Heidet, Marleen van den Heijkant, Sandrine Lemoine, Bertrand Knebelmann, Francesco Emma, Elena Levtchenko

    Vydáno 2020
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  5. 5
    Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

    Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome Autor Anne Debost‐Legrand, Cyrielle Tréard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet‐Thomas, Françoise Broux, Bruno Daniele, Stéphane Decramer, Georges Deschênes, D. Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, G Morin, François Nobili, Christine Piétrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas‐Poussou

    Vydáno 2017
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  6. 6
    An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

    An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis Autor Francesco Emma, William van’t Hoff, Katharina Hohenfellner, Rezan Topaloĝlu, Marcella Greco, Gema Ariceta, Chiara Bettini, Detlef Böckenhauer, Koenraad Veys, Lars Pape, Sally A. Hulton, Suzanne Collin, Fatih Özaltın, Aude Servais, Georges Deschênes, Robert Novo, Aurélia Bertholet‐Thomas, Jun Oh, Marlies Cornelissen, Mirian C. H. Janssen, Dieter Haffner, Lucilla Ravà, Corinne Antignac, Olivier Devuyst, Patrick Niaudet, Elena Levtchenko

    Vydáno 2021
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  7. 7
    Clinical and Genetic Spectrum of Bartter Syndrome Type 3

    Clinical and Genetic Spectrum of Bartter Syndrome Type 3 Autor Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour‐Hendili, Pierre‐Yves Courand, Christophe Simian, Georges Deschênes, Thérèsa Kwon, Aurélia Bertholet‐Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, P Cozette, Jean‐Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde‐Chiche, Bertrand Knebelmann, Marie‐Pierre Lavocat, Sandrine Lemoine, D. Djeddi, Brigitte Llanas, Férielle Louillet, Élodie Merieau, Maria Mileva, Luísa Mota‐Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwénaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B. Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas‐Poussou

    Vydáno 2017
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  8. 8
    Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

    Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference Autor Craig B. Langman, Bruce A. Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Graham Lipkin, Julian Midgley, Chris Ottolenghi, Aude Servais, Neveen A. Soliman, Jess G. Thoene, Elena Levtchenko, Oliver Amon, Gema Ariceta, Maryan Basurto, Leticia Belmont‐Martínez, Aurélia Bertholet‐Thomas, Marjolein Bos, Thomas Brown, Stéphanie Cherqui, Marlies Cornelissen, Monte A. Del Monte, Jie Ding, Ranjan Dohil, Maya Doyle, Ewa Elenberg, William A. Gahl, Víctor Aguado Gómez, Marcella Greco, Christy Greeley, Larry A. Greenbaum, Paul C. Grimm, Katharina Hohenfellner, Teresa M. Holm, Valerie Hotz, Mirian C. H. Janssen, Frederick J. Kaskel, Rita Magriço, Galina Nesterova, Philip Newsholme, Patrick Niaudet, Patrice Rioux, Minnie Sarwal, Jerry A. Schneider, Rezan Topaloĝlu, Doris A. Trauner, María Helena Vaisbich, Lambertus P. van den Heuvel, William van’t Hoff

    Vydáno 2016
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  9. 9
    Treatment and long-term outcome in primary distal renal tubular acidosis

    Treatment and long-term outcome in primary distal renal tubular acidosis Autor Sergio Camilo Lopez-Garcia, Francesco Emma, Stephen B. Walsh, Marc Fila, Nakysa Hooman, Marcin Zaniew, Aurélia Bertholet‐Thomas, Giacomo Colussi, Kathrin Burgmaier, Elena Levtchenko, Jyoti Sharma, Jyoti Singhal, Neveen A. Soliman, Gema Ariceta, Biswanath Basu, Luisa Murer, Velibor Tasić, А.Н. Цыгин, Stéphane Decramer, Helena Gil‐Peña, Linda Koster‐Kamphuis, Claudio La Scola, Jutta Gellermann, Martin Konrad, Marc R. Liliën, Telma Francisco, Despoina Tramma, Peter Trnka, Selçuk Yüksel, Rosa Caruso, Milan Chromek, Zelal Ekinci, Giovanni Gambaro, Jameela A. Kari, Jens König, Francesca Taroni, Julia Thumfart, Francesco Trepiccione, Louise Winding, Elke Wühl, Ayşe Ağbaş, А. Г. Белькевич, Rosa Vargas‐Poussou, Anne Blanchard, Giovanni Conti, Olivia Boyer, İsmail Dursun, Ayşe Seda Pınarbaşı, Engin Melek, Marius Miglinas, Robert Novo, Andrew Mallett, Danko Milošević, Maria Szczepańska, Sarah Wente, Hae Il Cheong, Rajiv Sinha, Zoran Gucev, Stephanie Dufek, Daniela Iancu, Amira Peco‐Antić, Amrit Kaur, Antonino Paglialunga, Aude Servais, Branko Lutovac, Ewout J. Hoorn, Hadas Shasha‐Lavsky, Jérôme Harambat, Astrid Godron-Dubrasquet, Kathrin Buder, Lise Allard, Ludwig Patzer, М.В. Шумихина, Matthias Hansen, Nikoleta Printza, Nuran Küçük, Ortraud Beringer, Rajendra Bhimma, Rimantė Čerkauskienė, Thomas J. Neuhaus, Valbona Stavileci, Tim Ulinski, Nida Dinçel, Nilufar Mohebbi, Robert Kleta, Franz Schaefer, Detlef Böckenhauer

    Vydáno 2018
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  10. 10
    PFMG2025–integrating genomic medicine into the national healthcare system in France

    PFMG2025–integrating genomic medicine into the national healthcare system in France Autor Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann, Cécile Acquaviva, Flavie Ader, Salma Adham, Dalila Adjaoud, Alexandra Afenjar, Nathalie Aladjidi, Anne‐Sophie Alary, F. Albarel, Sabrina Albert, Lise Allard, Ingrid Allix, Violaine Alunni, Inês F. Amado, Cyril Amouroux, Nicolas André, Chloé Angelini, Mathieu Anheim, Ignacio Antolin Sanfelliz, Thomas Aparicio, Chloé Arfeuille, J Arlet, Lionel Arnaud, Pauline Arnaud, Guilhem Arnold, Tania Attié‐Bitach, Marion Aubert‐Mucca, Isabelle Audo, Marie‐Pierre Audrézet, Maxime Auroux, Céline Auzanneau, Xavier Ayrignac, Ibrahima Ba, Anne Bachelot, Delphine Bacq, Séverine Bacrot, Brigitte Bader‐Meunier, Sarah Baer, Stéphanie Baert‐Desurmont, Laurence Bal-Theoleyre, Ralyath Balogoun, Philippe Baltzinger, Guillaume Banneau, Claire Bar, Audrey Barbet, Giulia Barcia, Laure Barjhoux, Anne Barlier, Vincent Barlogis, Marc Barritault, Magalie Barth, Aurore Barthod-Malat, Peggy Baudouin-Cornu, Geneviève Baujat, Amandine Baurand, Jacques‐Olivier Bay, Michèle Beau‐Faller, Jean-Christophe Beaudoin, Rémi Bellance, Christine Bellanné‐Chantelot, C. Bellera, Alexandre Bélot, Raihane Ben Abdeljelil, Rihab Ben Sghaier, Joy Benadiba, S Bénard, Claire Bénéteau, Karelle Bénistan, Fouzia Benkerdou, Mehdi Benkirane, Jean‐François Benoist, Patrick R. Benusiglio, Camille Bergès, Anne Bergougnoux, Maureen Bernadach, Emilien Bernard, Valérie Bernard, Virginie Bernard, Dounia Beroug, Aurélie Berrard, Jérôme Bertherat, Pascaline Berthet, Clotilde Berthier, Aurélia Bertholet‐Thomas, Jean‐Philippe Bertocchio, François Bertucci, Céline Besse, Elsa Besse-Pinot, D. Bessis, Pauline Beuvain, Stéphane Bézieau, Marie Bidart, Ivan Bièche, Margaux Biehler, Thierry Bienvenu, Frédéric Bilan

    Vydáno 2025
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