Search Results - Anna Dolcetta‐Capuzzo

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  1. 1
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study by Stefan Groeneweg, van Geest FS, Ayhan Abacı, Alberto Alcantud, Ambegaonkar GP, Armour CM, Parkash A. Bakhtiani, Diana Bârcă, Bertini ES, van Beynum Im, Nicola Brunetti‐Pierri, Massimiliano Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Carlotta Castiglioni, Krishnarpan Chatterjee, de Coo IFM, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Koray Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Dremmen MHG, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Biju George, Gevers EF, Annette Hackenberg, Zita Halász, B. Heinrich, Thao Huynh, Anna Kłosowska, van der Knaap, van der Knoop, Daniel Konrad, Koolen DA, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Lorea CF, Lourenco CM, RJ Lunsing, G Lyons, Jana Malíková, Mancilla EE, Aaron McGowan, Verónica Mericq, Lora FM, Cassandra Moran, Muller Ke, Isabelle Oliver‐Petit, Laura Paone, Paul PG, Michel Polak, Francesco Porta, Poswar FO, Christina Reinauer, Klára Roženková, Menevse TS, Peter Simm, András Simon, Yogesh Preet Singh, Marco Spada, van der Spek J, Stals MAM, Athanasia Stoupa, Subramanian GM, Davide Tonduti, Serkan Turan, den Uil CA, Joel A. Vanderniet, van der Walt A, Wémeau Jl, Jolanta Wierzba, de Wit MY, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, Visser WE

    Published 2021
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  2. 2
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study by Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud, Gautam Ambegaonkar, Christine M. Armour, Priyanka Bakhtiani, Diana Bârcă, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, I.F.M. de Coo, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien Gevers, Annette Hackenberg, Zita Halász, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Marjo S. van der Knaap, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klára Roženková, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Jet van der Spek, Milou A.M. Stals, Athanasia Stoupa, Gopinath M. Subramanian, Davide Tonduti, Serap Turan, Corstiaan A. den Uil, Joel A. Vanderniet, Adri van der Walt, Jean‐Louis Wémeau, Jolante Wierzba, Marie‐Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, W. Edward Visser

    Published 2020
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  3. 3
    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration by Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina‐Gómez, Rosalie Sterenborg, Hao Wang, Anna Dolcetta‐Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abacı, Erica L T van den Akker, Gautam Ambegaonkar, Christine M. Armour, I. Bacos, Priyanka Bakhtiani, Diana Bârcă, Andrew J. Bauer, Sjoerd A.A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet van der Spek, I.F.M. de Coo, R. Coutant, Dana Craiu, Patricia Crock, Christian de Goede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna Hurst, Tony Huynh, Amber Isaza, Anna Kłosowska, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen LaFranchi, Amy Lawson‐Yuen, Jan Lebl, Selmar Leeuwenburgh, M Linder-Lucht, Amelia Martí, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Kenneth McCormick, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Lindsey Nicol, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano de Oliveira Poswar, Christina Reinauer, Klára Roženková, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A.M. Stals, Merel T Stegenga, Athanasia Stoupa

    Published 2025
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