Resultados da pesquisa - Marc Fila

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  1. 1
    Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

    Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients Por Dominique P. Germain, Alain Fouilhoux, Stéphane Decramer, M. Tardieu, Pascal Pillet, Marc Fila, Serge Rivera, Georges Deschênes, Didier Lacombe

    Publicado em 2019
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  2. 2
    Albuminuria induces a proinflammatory and profibrotic response in cortical collecting ducts via the 24p3 receptor

    Albuminuria induces a proinflammatory and profibrotic response in cortical collecting ducts via the 24p3 receptor Por Éva Dizin, Udo Hasler, Stellor Nlandu Khodo, Marc Fila, Isabelle Roth, Thomas Ernandez, Alain Doucet, Pierre‐Yves Martin, Eric Féraille, Sophie de Seigneux

    Publicado em 2013
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  3. 3
    Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease

    Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease Por Nathalie Gayrard, Maëlle Plawecki, Céline Lauret, Marc Fila, Pierre Sicard, Flore Duranton, Juliana H. Boukhaled, Irene Cortijo‐Tejero, Manuela Lotierzo, Bernard Jover, Jean‐Paul Cristol, Fabrice Raynaud

    Publicado em 2025
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  4. 4
    Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation

    Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation Por Fádi Fakhouri, Marc Fila, François Provôt, Yahsou Delmas, Christelle Barbet, Valérie Châtelet, Cédric Rafat, Mathilde Cailliez, Julien Hogan, Aude Servais, Alexandre Karras, Raïfah Makdassi, Feriell Louillet, Jean‐Philippe Coindre, Éric Rondeau, Chantal Loirat, Véronique Frémeaux‐Bacchi

    Publicado em 2016
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  5. 5
    Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment

    Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment Por Stéphanie Clavé, Michel Tsimaratos, Mohamed Boucékine, Bruno Ranchin, Rémi Salomon, Olivier Dunand, Arnaud Garnier, Annie Lahoche, Marc Fila, G. Roussey, Françoise Broux, Jérôme Harambat, Sylvie Cloarec, Soraya Menouer, Georges Deschênes, Isabelle Vrillon, Pascal Auquier, Julie Berbis

    Publicado em 2019
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  6. 6
    Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome

    Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome Por Larry A. Greenbaum, Marc Fila, Gianluigi Ardissino, Samhar Al‐Akash, Jonathan Evans, Paul Henning, Kenneth V. Lieberman, Silvio Maringhini, Lars Pape, Lesley Rees, Nicole C. A. J. van de Kar, Johan Vande Walle, Masayo Ogawa, Camille L. Bedrosian, Christoph Licht

    Publicado em 2016
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  7. 7
    Outbreak of Shiga toxin-producing Escherichia coli (STEC) O26 paediatric haemolytic uraemic syndrome (HUS) cases associated with the consumption of soft raw cow’s milk cheeses, France, March to May 2019

    Outbreak of Shiga toxin-producing Escherichia coli (STEC) O26 paediatric haemolytic uraemic syndrome (HUS) cases associated with the consumption of soft raw cow’s milk cheeses, Fra... Por Gabrielle Jones, Sophie Lefèvre, Marie-Pierre Donguy, Athinna Nisavanh, Garance Terpant, Erica Fougère, Emmanuelle Vaissière, Anne Guinard, Alexandra Mailles, Henriette de Valk, Marc Fila, Corentin Tanné, Caroline Le Borgne, François‐Xavier Weill, Stéphane Bonacorsi, Nathalie Jourdan–Da Silva, Patricia Mariani‐Kurkdjian

    Publicado em 2019
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  8. 8
    Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children

    Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children Por Mathilde Glénisson, Mathilde Grapin, Thomas Blanc, Evgenia Preka, Julien Hogan, Manon Aurelle, G. Roussey, Antoine Mouche, Caroline Rousset‐Rouvière, Robert Novo, Camille Faudeux, Marc Fila, Isabelle Vrillon, Sylvie Cloarec, Tabassome Simon, Jérôme Harambat, Edouard Martinez Casado, Julien Rod, Morgane Carre Lecoindre, Laurence Heidet, Olivia Boyer, Nicolas Garcelon, Jessica Kachmar, Guillaume Dorval, Sabine Sarnacki

    Publicado em 2025
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  9. 9
    Real-world use of complement inhibitors for haemolytic uraemic syndrome: an analysis of the European Rare Kidney Disease Registry cohort

    Real-world use of complement inhibitors for haemolytic uraemic syndrome: an analysis of the European Rare Kidney Disease Registry cohort Por Aleksandra Vujović, Anne‐Laure Sellier‐Leclerc, Maria Cristina Mancuso, Olivia Boyer, Atif Awan, Antonio Gargiulo, Sebastian Loos, Marc Fila, Augustina Jankauskiené, Gema Ariceta, Nele Kanzelmeyer, Enrico Vidal, Maria Van Dyck, Tanja Kersnik Levart, N Simánková, Stéphane Decramer, Jonas Hofstetter, Marina Vivarelli, Savino Sciascia, Nicole C. A. J. van de Kar, Franz Schaefer

    Publicado em 2025
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  10. 10
    Agonists of prostaglandin E <sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies

    Agonists of prostaglandin E <sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies Por Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Amandine Viau, Clémentine Mahaut, Katy Billot, Éléonore Birgy, Meriem Garfa-Traoré, Stéphanie Roy, Salomé Ceccarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot‐Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean‐Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier

    Publicado em 2022
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  11. 11
    Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study

    Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study Por Fádi Fakhouri, Marc Fila, Aurélie Hummel, David Ribes, Anne‐Laure Sellier‐Leclerc, Simon Ville, Claire Pouteil‐Noble, Jean‐Philippe Coindre, Moglie Le Quintrec, Éric Rondeau, Olivia Boyer, François Provôt, D. Djeddi, William Hanf, Yahsou Delmas, Férielle Louillet, Annie Lahoche, Guillaume Favrè, Valérie Châtelet, Emma Allain Launay, Claire Presne, Ariane Zaloszyc, Sophie Caillard, Stéphane Bally, Quentin Raimbourg, Leïla Tricot, Christiane Mousson, Aurélie Le Thuaut, Chantal Loirat, Véronique Frémeaux‐Bacchi

    Publicado em 2020
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  12. 12
    Clinical and Genetic Spectrum of Bartter Syndrome Type 3

    Clinical and Genetic Spectrum of Bartter Syndrome Type 3 Por 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

    Publicado em 2017
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  13. 13
    Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

    Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy Por Stefania Drovandi, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, А.Н. Цыгин, Kar Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset‐Rouvière, Małgorzata Stańczyk, Irena Bałasz–Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, İsmail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Sergey Baiko, Lina María Serna-­Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska‐Ziętkiewicz, Irena Bałasz–Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzęcka, А.Н. Цыгин, Larisa Prikhodina, Radovan Bogdanović, Ali Anarat, Fatih Özaltın, Sevgı Mır, Svitlana Fomina, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Hong Xu, Qian Shen, Jia Rao, Cuihua Liu, Shuzhen Sun, Fang Deng, Yang Dong, Xiaowen Wang, Jiangwei Luan

    Publicado em 2022
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  14. 14
    Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

    Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency Por Stefania Drovandi, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, А.Н. Цыгин, Kar Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz–Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, İsmail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Sergey Baiko, Lina María Serna‐Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska‐Ziętkiewicz, Irena Bałasz–Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzęcka, А.Н. Цыгин, Larisa Prikhodina, Radovan Bogdanović, Ali Anarat, Fatih Özaltın, Sevgı Mır, Svitlana Fomina, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Hong Xu, Qian Shen, Jia Rao, Cuihua Liu, Shuzhen Sun, Fang Deng, Yang Dong, Xiaowen Wang, Jiangwei Luan

    Publicado em 2022
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  15. 15
    Value of biomarkers for predicting immunoglobulin A vasculitis nephritis outcome in an adult prospective cohort

    Value of biomarkers for predicting immunoglobulin A vasculitis nephritis outcome in an adult prospective cohort Por Laureline Berthelot, Agnès Jamin, Denis Viglietti, Jonathan Chemouny, Hamza Ayari, Melissa Pierre, P Housset, Virginia Sauvaget, Margarita Hurtado‐Nedelec, François Vrtovsnik, Éric Daugas, Zahir Amoura, Vincent Audard, Sonia Azib, M. Bagot, Véronique Baudouin, Olivier Benvéniste, M. Bézier, Coralie Bloch‐Queyrat, N. Bocquet, Jean‐Jacques Boffa, Jean‐David Bouaziz, Karim Bouchireb, E. Bourrat, Philippe Bouvier, Karine Brochard, Guillaume Burda, Guillaume Bussone, Valérie Caudwell, L. Champion, G. Chéron, F. Cordoliani, Stéphane Decramer, L. Dehen, Laurène Dehoux, Michel Delahousse, Georges Deschênes, Mathilde de Menthon, C. Demongeot, Antoine Dossier, Claire Dossier, Monique Dehoux, Olivier Fain, Dominique Farge, Marc Fila, C. Fite, Martin Flamant, Héloïse Flament, Antoine Froissart, Elisa Funck‐Brentano, Sophie Georgin‐Lavialle, Denis Glotz, Bertrand Godeau, Philippe Grimbert, Loı̈c Guillevin, M. Halabi‐Tawil, Isabelle Halphen, Alexandre Karras, Thérèsa Kwon, Céline Lebas, Nicolas Limal, Anne Maisin, Alexis Mathian, A. Mékinian, J Mercier, Fabrice Mihout, Gentiane Monsel, Vincent Pestre, Maryam Piram, T. Quéméneur, Quentin Raimbourg, A. Raynaud-Simon, Philippe Rémy, Jacqueline Rivet, Alain Robert, Rémi Salomon, Anne Saussine-Hickman, Alexandre Seidowsky, A. Smail, Stéphanie Tellier, Éric Thervet, Leïla Tricot, Philippe Vanhille, David Verhelst, Laurence Vrigneaud, Anne-Sophie Verhoeven, Jérôme Verine, Emmanuelle Vidal‐Petiot, M. Viguier, Nathalie Vittoz, Renato C. Monteiro, Évangéline Pillebout

    Publicado em 2017
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  16. 16
    Treatment and long-term outcome in primary distal renal tubular acidosis

    Treatment and long-term outcome in primary distal renal tubular acidosis Por 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

    Publicado em 2018
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  17. 17
    Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network

    Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network Por Franz Schaefer, Laura Benner, Dagmara Borzych–Dużałka, Joshua J. Zaritsky, Hong Xu, Lesley Rees, Zenaida L. Antonio, Erkin Serdaroğlu, Nakysa Hooman, Hiren P. Patel, Lale Sever, Karel Vondrák, Joseph T. Flynn, Anabella Rébori, William Wong, Tuula Hölttä, Zeynep Yürük Yıldırım, Bruno Ranchin, Ryszard Grenda, Sara Testa, Dorota Drożdż, Attila J. Szabó, Loai Eid, Biswanath Basu, Renata Vitkevič, Cynthia Wong, Stephen J. Pottoore, Dominik N. Müller, Ruhan Düşünsel, Claudia González, Marc Fila, Lisa Sartz, Anja Sander, Bradley A. Warady, M Adragna, Paula A. Coccia, Ángela Suárez, Patricia G. Vallés, Reza Salim, Laura Alconcher, Klaus Arbeiter, K. van Hoeck, Vera Hermina Kalika Koch, Janusz Feber, Elizabeth Harvey, Colin White, M. Valenzuela, Jorge Villagrá, F. Cano, M Contreras, A. Vogel, Pedro Sepúlveda Zambrano, P Hevia, Mc Chiu, Jie Ding, Juan José Vanegas, Lina María Serna‐Higuita, G. Roussey, Tim Ulinski, Saoussen Krid, Michel Fischbach, Jérôme Harambat, Ch. Samaille, Rainer Büscher, Jun Oh, Lars Pape, Ulrich John, Günter Klaus, H. Billing, C. Stafanidis, Fotiοs Papachristou, Arvind Bagga, Madhuri Kanitkar, Rajiv Sinha, Sanjum S. Sethi, Enrico Verrina, Enrico Vidal, Giovanna Leozappa, Daniel Landau, Il Soo Ha, Kyu-hyun Paik, Ahmad Bilal, E Sahpazova, Yam-Ngo Lim, Lorena Sànchez Barbosa, Jaap W. Groothoff, Y. Konijenberg, Yolanda Silva, M. Al Ryami, Reyner Loza Munárriz, Bożena Leszczyńska, Maria Szczepańska, O Brumariu, Jameela A. Kari, D Kruscić, Hui‐Kim Yap, Gema Ariceta, Mireia Aguirre, Fernando Santos, Bogna Niwinska-Faryna

    Publicado em 2019
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  18. 18
    ADPedKD: A Global Online Platform on the Management of Children With ADPKD

    ADPedKD: A Global Online Platform on the Management of Children With ADPKD Por Stéphanie De Rechter, Detlef Böckenhauer, Lisa M. Guay‐Woodford, Isaac Liu, Andrew Mallett, Neveen A. Soliman, Lucimary C. Sylvestre, Franz Schaefer, Max C. Liebau, Djalila Mekahli, Piotr Adamczyk, Nurver Akıncı, Harika Alpay, Carmen Ardelean, Nadia Ayasreh, Zeki Aydın, A. Bael, Véronique Baudouin, US Bayrakci, A Bensman, Hanna Bialkevich, A. Biebuyck, Olivia Boyer, Omar Bjanid, Olivia Boyer, A. Bryłka, Salim Çalışkan, Alexandra Cambier, A. Camelio, Vincenza Carbone, Marina Charbit, Benedetta Chiodini, A. Chirita, Neslihan Çiçek, Rimantė Čerkauskienė, Laure Collard, Magda S. da Conceição, Ileana Constantinescu, Anne‐Laure Couderc, B. Crapella, Mirjana Cvetković, B. Dima, F. Diomeda, M. Docx, Nancy C. Dolan, Claire Dossier, Dorota Drożdż, Jens Drube, Oliver Dunand, Dušan Paripović, Loai Eid, Francesco Emma, M. Espino Hernández, Marc Fila, Mónica Furlano, Mihai Gafencu, M.S. Ghuysen, Mauro Giani, Mario Giordano, I. Girisgen, Nathalie Godefroid, Astrid Godron-Dubrasquet, I. Gojkovic, Elizabeth M. Gonzalez, İbrahim Gökçe, Jaap W. Groothoff, Stefano Guarino, Anne Guffens, P. R. Hansen, Jérôme Harambat, Sara Kretzschmar Haumann, Guanheng He, Laurence Heidet, Remon Helmy, F. Hémery, Nakysa Hooman, Brigitte Llanas, Augustina Jankauskiené, Peter Janssens, S. Karamaria, I. A. Kazyra, Julian Koenig, Saoussen Krid, Penny Krug, V. Kwon, Angela La Manna, V. Leroy, Mieczysław Litwin, Jacques Lombet, Germana Longo, Adrian Lungu, Amali Mallawaarachchi, Anna Marín, P. Marzuillo, Laura Massella, Antonio Mastrangelo, Helen McCarthy, Monika Miklaszewska, Anna Moczulska, Giovanni Montini

    Publicado em 2019
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  19. 19
    Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

    Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants Por Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomáš Seeman, Lale Sever, Przemysław Sikora, Maria Szczepańska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz T. Weber, Elke Wühl, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max C. Liebau, Loai Eid, Klaus Arbeiter, Nathalie Godefroid, Jacques Lombet, Aurélie De Mul, Markus Feldkoetter, Jakub Zieg, Franziska Grundmann, Matthias Galiano, Bjoern Buchholz, Anja Buescher, Karsten Häffner, Oliver Groß, Ludwig Patzer, Jun Oh, Dieter Haffner, Wanja M. Bernhardt, Susanne Schaefer, Simone Wygoda, Jan Halbritter, Ute Derichs, Günter Klaus, Felix Lechner, Sabine Ponsel, Jens König, Hagen Staude, Donald Wurm, Martin Bald, Michaela Geßner, Neveen A. Soliman, Gema Ariceta, Juan David González-Rodríguez, Francisco de la Cerda Ojeda, Jérôme Harambat, Denis Morin, Claire Dossier, Guillaume Dorval, Rukshana Shroff, Stella Stabouli, Nakysa Hooman, Francesca Mencarelli, William Morello, Germana Longo, Francesco Emma, Augustina Jankauskiené, Katarzyna Taranta‐Janusz, Ilona Zagożdżon, Katarzyna Zachwieja, Małgorzata Stańczyk, Beata Bieniaś, Mieczysław Litwin, Aurelia Morawiec‐Knysak, Alberto Caldas Afonso, Oliver Dunand, Andreea Liana Răchişan, Gordana Miloševski‐Lomić, Svetlana Papizh, Rina Rus, Houweyda Jilani, Bahriye Atmış, Ali Düzova, Alper Soylu, Cengiz Candan, Salim Çalışkan, Alev Yılmaz

    Publicado em 2021
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  20. 20
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies Por Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    Publicado em 2023
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