Хайлтын үр дүнгүүд - Francesco Porta

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  1. 1
    Ultrasound elastography is a reproducible and feasible tool for the evaluation of the patellar tendon in healthy subjects

    Ultrasound elastography is a reproducible and feasible tool for the evaluation of the patellar tendon in healthy subjects -н Francesco Porta, Nemanja Damjanov, Felice Galluccio, Annamaria Iagnocco, Marco Matucci‐Cerinic

    Хэвлэсэн 2013
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  2. 2
    The role of Doppler ultrasound in rheumatic diseases

    The role of Doppler ultrasound in rheumatic diseases -н Francesco Porta, Goran Radunović, Violeta Vlad, Mihaela Micu, Rodina Nestorova, Tzvetanka Petranova, Annamaria Iagnocco

    Хэвлэсэн 2012
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  3. 3
    Human serum albumin: twenty‐three genetic variants and their population distribution

    Human serum albumin: twenty‐three genetic variants and their population distribution -н L.R. Weitkamp, Francisco M. Salzano, J.V. Neel, Francesco Porta, R. A. Geerdink, A. L. Tárnoky

    Хэвлэсэн 1973
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  4. 4
    Arginase 1 deficiency: a treatable form of spastic paraplegia

    Arginase 1 deficiency: a treatable form of spastic paraplegia -н Alessandro P. Burlina, Anna Ardissone, Roberta Battini, Alberto Burlina, Serena Gasperini, Andrea Pession, Francesco Porta, Carlo Dionisi‐Vici

    Хэвлэсэн 2025
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  5. 5
    Ultrasound Elastography Assessment of Skin Involvement in Systemic Sclerosis: Lights and Shadows

    Ultrasound Elastography Assessment of Skin Involvement in Systemic Sclerosis: Lights and Shadows -н Annamaria Iagnocco, O. Kaloudi, Chiara Perella, Francesca Bandinelli, Valeria Riccieri, M. Vasile, Francesco Porta, Guido Valesini, Marco Matucci‐Cerinic

    Хэвлэсэн 2010
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  6. 6
    Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

    Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists -н Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada

    Хэвлэсэн 2022
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  7. 7
    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency -н Vincenzo Leuzzi, Ca Carducci, Carla Carducci, Simone Pozzessere, Alberto Burlina, R. Cerone, Daniela Concolino, Donati Ma, Laura M. Fiori, Concetta Meli, A Ponzone, Francesco Porta, Pietro Strisciuglio, I. Antonozzi, Nenad Blau

    Хэвлэсэн 2010
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  8. 8
    Which are the most frequently involved peripheral joints in calcium pyrophosphate crystal deposition at imaging? A systematic literature review and meta-analysis by the OMERACT ultrasound – CPPD subgroup

    Which are the most frequently involved peripheral joints in calcium pyrophosphate crystal deposition at imaging? A systematic literature review and meta-analysis by the OMERACT ult... -н Antonella Adinolfi, Silvia Sirotti, Garifallia Sakellariou, Edoardo Cipolletta, Emilio Filippucci, Francesco Porta, Anna Zanetti, Nicola Ughi, Piercarlo Sarzi‐Puttini, Carlo Alberto Scirè, Helen Keen, Carlos Pineda, Lene Terslev, Maria Antonietta D’Agostino, Georgios Filippou

    Хэвлэсэн 2023
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  9. 9
    Definition and Reliability Assessment of Elementary Ultrasonographic Findings in Calcium Pyrophosphate Deposition Disease: A Study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force

    Definition and Reliability Assessment of Elementary Ultrasonographic Findings in Calcium Pyrophosphate Deposition Disease: A Study by the OMERACT Calcium Pyrophosphate Deposition D... -н Georgios Filippou, Carlo Alberto Scirè, Nemanja Damjanov, Antonella Adinolfi, Greta Carrara, Valentina Picerno, Carmela Toscano, George A. W. Bruyn, Maria Antonietta D’Agostino, Andrea Delle Sedie, Emilio Filippucci, Marwin Gutiérrez, Mihaela Micu, Ingrid Möller, Esperanza Naredo, Carlos Pineda, Francesco Porta, Wolfgang Schmidt, Lene Terslev, Violeta Vlad, Pascal Zufferey, Annamaria Iagnocco

    Хэвлэсэн 2017
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  10. 10
    TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

    TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation -н Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A.W. van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G. Holleboom, Richard J. Rodenburg, Joost P.H. Drenth, Martijn A. Huynen, Ron A. Wevers, Éva Morava, François Foulquier, Joris A. Veltman, Dirk Lefeber

    Хэвлэсэн 2016
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  11. 11
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies -н Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann

    Хэвлэсэн 2020
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  12. 12
    Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

    Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism -н Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, Filippo Manti, Meryem Karaca, Ida Vanessa Döederlein Schwartz, Roser Pons, Eduardo López‐Laso, Natalia Alexandra Julia Palacios, Francesco Porta, Ivana Kavečan, Mehmet Cihan Balcı, Marisela Dy-Hollins, Suet‐Na Wong, Mari Oppebøen, Leonardo Simão Medeiros, Leila Cristina Pedroso de Paula, Ángeles García‐Cazorla, Georg F. Hoffmann, Kathrin Jeltsch, Vincenzo Leuzzi, Gülden Gökçay, Daniel Hübschmann, Inga Harting, Zeynep Alev Özön, Serap Sivri, Thomas Opladen

    Хэвлэсэн 2023
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  13. 13
    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience -н Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi‐Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo la Marca, Luisa Spina, Tania Lorè, Concetta Meli, Marianna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Cláudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

    Хэвлэсэн 2022
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  14. 14
    The Genetic Landscape and Epidemiology of Phenylketonuria

    The Genetic Landscape and Epidemiology of Phenylketonuria -н Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A. F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, П. Гундорова, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter‐Konecki, Ania C. Muntau, Farès Namour, Mariusz Ołtarzewski, Andrea Paras, Belén Pérez, Emil Polák, A. V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl‐Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana‐da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau

    Хэвлэсэн 2020
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  15. 15
    Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

    Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study -н Ferdy S. van Geest, Stefan Groeneweg, Erica L.T. van den Akker, I. Bacos, Diana Bârcă, Sjoerd A.A. van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti‐Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson‐Yuen, M Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B. de Rijke, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel A. Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P. Peeters, W. Edward Visser

    Хэвлэсэн 2021
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  16. 16
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study -н 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

    Хэвлэсэн 2021
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  17. 17
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study -н 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

    Хэвлэсэн 2020
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  18. 18
    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 -н 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

    Хэвлэсэн 2025
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