학술논문
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'학술논문'
에서 검색결과 1,618건 | 목록
1~20
Academic Journal
Reig, Maria ; Sanduzzi-Zamparelli, Marco ; Forner, Alejandro ; Rimola, Jordi ; Ferrer-Fàbrega, Joana ; Burrel, Marta ; Garcia-Criado, Ángeles ; Díaz, Alba ; Llarch, Neus ; Iserte, Gemma ; Mollà, Meritxell ; Kelley, Robin K. ; Galle, Peter R. ; Mazzaferro, Vincenzo ; Salem, Riad ; Sangro, Bruno ; Singal, Amit G. ; Vogel, Arndt ; Yanagihara, Ted K. ; Ayuso, Carmen ; Torres, Ferran ; Bruix, Jordi
In Journal of Hepatology March 2026 84(3):631-654
Academic Journal
Rivolta, Carlo ; Celik, Elifnaz ; Kamdar, Dhryata ; Cancellieri, Francesca ; Kaminska, Karolina ; Ullah, Mukhtar ; Barberán-Martínez, Pilar ; Bouckaert, Manon ; Cortón, Marta ; Delanote, Emma ; Fernández-Caballero, Lidia ; García García, Gema ; Holtes, Lara K. ; Karali, Marianthi ; Lopez, Irma ; Peter, Virginie G. ; Schneider, Nina ; Vincke, Lieselot ; Ayuso, Carmen ; Banfi, Sandro ; Bocquet, Beatrice ; Coppieters, Frauke ; Cremers, Frans P.M. ; Inglehearn, Chris F. ; Iwata, Takeshi ; Kalatzis, Vasiliki ; Koenekoop, Robert K. ; Millán, José M. ; Sharon, Dror ; Toomes, Carmel ; Quinodoz, Mathieu
In The American Journal of Human Genetics 2 October 2025 112(10):2253-2265
Academic Journal
Georgiou, Michalis ; Fujinami, Kaoru ; Fujinami-Yokokawa, Yu ; Nasser, Fadi ; Gale, Michael J. ; Ayuso, Carmen ; Mahroo, Omar A. ; Pontikos, Nikolas ; Bouzia, Zaina ; Jimenez-Rolando, Belen ; Carreño, Ester ; Baraas, Rigmor C. ; Holtan, Josephine P. ; Bragadottir, Ragnheidur ; Thiadens, Alberta A.H.J. ; Pechhacker, Monika G. ; Vincent, Ajoy ; Héon, Elise ; Altalbishi, Alaa ; Maldonado, Ramiro S. ; Neidhardt, John ; Kousal, Bohdan ; Lišková, Petra ; Bertelsen, Mette ; Larsen, Lars M. ; Pennesi, Mark E. ; Kohl, Susanne ; Wissinger, Bernd ; Zrenner, Eberhart ; Webster, Andrew R. ; Michaelides, Michel
In American Journal of Ophthalmology October 2025 278:73-80
Academic Journal
Kaminska, Karolina ; Cancellieri, Francesca ; Quinodoz, Mathieu ; Moye, Abigail R. ; Bauwens, Miriam ; Lin, Siying ; Janeschitz-Kriegl, Lucas ; Hayman, Tamar ; Barberán-Martínez, Pilar ; Schlaeger, Regina ; Van den Broeck, Filip ; Ávila Fernández, Almudena ; Fernández-Caballero, Lidia ; Perea-Romero, Irene ; García-García, Gema ; Salom, David ; Mazzola, Pascale ; Zuleger, Theresia ; Poths, Karin ; Haack, Tobias B. ; Jacob, Julie ; Vermeer, Sascha ; Terbeek, Frédérique ; Feltgen, Nicolas ; Moulin, Alexandre P. ; Koutroumanou, Louisa ; Papadakis, George ; Browning, Andrew C. ; Madhusudhan, Savita ; Gränse, Lotta ; Banin, Eyal ; Sousa, Ana Berta ; Coutinho Santos, Luisa ; Kuehlewein, Laura ; De Angeli, Pietro ; Leroy, Bart P. ; Mahroo, Omar A. ; Sedgwick, Fay ; Eden, James ; Pfau, Maximilian ; Andréasson, Sten ; Scholl, Hendrik P.N. ; Ayuso, Carmen ; Millán, José M. ; Sharon, Dror ; Tsilimbaris, Miltiadis K. ; Vaclavik, Veronika ; Tran, Hoai V. ; Ben-Yosef, Tamar ; De Baere, Elfride ; Webster, Andrew R. ; Arno, Gavin ; Sergouniotis, Panagiotis I. ; Kohl, Susanne ; Santos, Cristina ; Rivolta, Carlo
In The American Journal of Human Genetics 3 April 2025 112(4):808-828
Academic Journal
Vulto-van Silfhout, Anneke T. ; Jazet, Ingrid M. ; Yzer, Suzanne ; Pas, Jeroen ; Demirdas, Serwet ; van Rossum, Elisabeth F.C. ; Thiadens, Alberta A.H.J. ; van Beek, Ronald ; Haer-Wigman, Lonneke ; Barge-Schaapveld, Daniela Q.C.M. ; Brasch-Andersen, Charlotte ; Frost, Simon ; Bauwens, Miriam ; De Baere, Elfride ; Balikova, Irina ; Van den Broeck, Filip ; Weisz-Hubshman, Monika ; Joset, Pascal ; Miny, Peter ; Filges, Isabel ; Kohl, Susanne ; De Angeli, Pietro ; Kühlewein, Laura ; Bodenbender, Jan-Philipp ; Haack, Tobias ; Poths, Karin ; Fernandez-Caballero, Lidia ; Corton, Marta ; Blanco Kelly, Fiona ; Ayuso, Carmen ; Martínez-Esteban, Peggy ; Vissing, John ; Díaz-Manera, Jordi ; Straub, Volker ; Töpf, Ana ; Lin, Siying ; Arno, Gavin ; Macken, William L. ; Spillane, Jennifer ; Ramachandran, Radha ; de Vrieze, Erik ; van Ham, Tjakko ; Roosing, Susanne ; Oud, Machteld M.
In Genetics in Medicine June 2025
Academic Journal
García-Bohórquez, Belén ; Barberán-Martínez, Pilar ; Aller, Elena ; Jaijo, Teresa ; Mínguez, Pablo ; Rodilla, Cristina ; Fernández-Caballero, Lidia ; Blanco-Kelly, Fiona ; Ayuso, Carmen ; Sanchis-Juan, Alba ; Broekman, Sanne ; de Vrieze, Erik ; van Wijk, Erwin ; García-García, Gema ; Millán, José M.
In Molecular Therapy - Nucleic Acids 10 December 2024 35(4)
Academic Journal
Tristão-Pereira, Catarina ; Fuster, Valentin ; Lopez-Jimenez, Alejandro ; Fernández-Pena, Alberto ; Semerano, Aurora ; Fernandez-Nueda, Irene ; Garcia-Lunar, Ines ; Ayuso, Carmen ; Sanchez-Gonzalez, Javier ; Ibanez, Borja ; Gispert, Juan Domingo ; Cortes-Canteli, Marta
In American Heart Journal December 2024 278:195-207
Academic Journal
Malka, Samantha ; Biswas, Pooja ; Berry, Anne-Marie ; Sangermano, Riccardo ; Ullah, Mukhtar ; Lin, Siying ; D’Antonio, Matteo ; Jestin, Aleksandr ; Jiao, Xiaodong ; Quinodoz, Mathieu ; Sullivan, Lori ; Gardner, Jessica C. ; Place, Emily M. ; Michaelides, Michel ; Kaminska, Karolina ; Mahroo, Omar A. ; Schiff, Elena ; Wright, Genevieve ; Cancellieri, Francesca ; Vaclavik, Veronika ; Santos, Cristina ; Rehman, Atta Ur ; Mehrotra, Sudeep ; Azhar Baig, Hafiz Muhammad ; Iqbal, Muhammad ; Ansar, Muhammad ; Santos, Luisa Coutinho ; Sousa, Ana Berta ; Tran, Viet H. ; Matsui, Hiroko ; Bhatia, Anjana ; Naeem, Muhammad Asif ; Akram, Shehla J. ; Akram, Javed ; Riazuddin, Sheikh ; Ayuso, Carmen ; Pierce, Eric A. ; Hardcastle, Alison J. ; Riazuddin, S. Amer ; Frazer, Kelly A. ; Hejtmancik, J. Fielding ; Rivolta, Carlo ; Bujakowska, Kinga M. ; Arno, Gavin ; Webster, Andrew R. ; Ayyagari, Radha
In The American Journal of Human Genetics 5 September 2024 111(9):2012-2030
Academic Journal
Quinodoz, Mathieu ; Kaminska, Karolina ; Cancellieri, Francesca ; Han, Ji Hoon ; Peter, Virginie G. ; Celik, Elifnaz ; Janeschitz-Kriegl, Lucas ; Schärer, Nils ; Hauenstein, Daniela ; György, Bence ; Calzetti, Giacomo ; Hahaut, Vincent ; Custódio, Sónia ; Sousa, Ana Cristina ; Wada, Yuko ; Murakami, Yusuke ; Fernández, Almudena Avila ; Hernández, Cristina Rodilla ; Minguez, Pablo ; Ayuso, Carmen ; Nishiguchi, Koji M. ; Santos, Cristina ; Santos, Luisa Coutinho ; Tran, Viet H. ; Vaclavik, Veronika ; Scholl, Hendrik P.N. ; Rivolta, Carlo
In The American Journal of Human Genetics 4 April 2024 111(4):701-713
Academic Journal
Rodilla, Cristina ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona ; Trujillo-Tiebas, María José ; Avila-Fernandez, Almudena ; Riveiro-Alvarez, Rosa ; del Pozo-Valero, Marta ; Perea-Romero, Irene ; Swafiri, Saoud Tahsin ; Zurita, Olga ; Villaverde, Cristina ; López, Miguel Ángel ; Romero, Raquel ; Iancu, Ionut Florin ; Núñez-Moreno, Gonzalo ; Jiménez-Rolando, Belén ; Martin-Gutierrez, María Pilar ; Carreño, Ester ; Minguez, Pablo ; García-Sandoval, Blanca ; Ayuso, Carmen ; Corton, Marta
In American Journal of Ophthalmology October 2023 254:87-103
Academic Journal
Sanduzzi-Zamparelli, Marco ; Mariño, Zoe ; Lens, Sabela ; Sapena, Victor ; Iserte, Gemma ; Pla, Anna ; Granel, Núria ; Bartres, Concepció ; Llarch, Neus ; Vilana, Ramón ; Nuñez, Isabel ; Darnell, Anna ; Belmonte, Ernest ; García-Criado, Angeles ; Díaz, Alba ; Muñoz-Martinez, Sergio ; Ayuso, Carmen ; Bianchi, Luis ; Fuster-Anglada, Carla ; Rimola, Jordi ; Forner, Alejandro ; Torres, Ferran ; Bruix, Jordi ; Forns, Xavier ; Reig, Maria
In Journal of Hepatology April 2022 76(4):874-882
Academic Journal
Reig, Maria ; Forner, Alejandro ; Rimola, Jordi ; Ferrer-Fàbrega, Joana ; Burrel, Marta ; Garcia-Criado, Ángeles ; Kelley, Robin K. ; Galle, Peter R. ; Mazzaferro, Vincenzo ; Salem, Riad ; Sangro, Bruno ; Singal, Amit G. ; Vogel, Arndt ; Fuster, Josep ; Ayuso, Carmen ; Bruix, Jordi
In Journal of Hepatology March 2022 76(3):681-693
Academic Journal
Fernández-Caballero, Lidia; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Martín-Mérida, María Inmaculada; Quinodoz, Mathieu; Ullah, Mukhtar; Carreño, Ester; Martin-Gutierrez, María Pilar; García-Sandoval, Blanca; Minguez, Pablo; Rivolta, Carlo; Corton, Marta; Ayuso, Carmen
Academic Journal
Ferrer-Fàbrega, Joana ; Sampson-Dávila, Jaime ; Forner, Alejandro ; Sapena, Victor ; Díaz, Alba ; Vilana, Ramón ; Navasa, Miquel ; Fondevila, Constantino ; Miquel, Rosa ; Ayuso, Carmen ; García-Valdecasas, Juan Carlos ; Bruix, Jordi ; Reig, María ; Fuster, Josep
In Journal of Hepatology November 2021 75(5):1154-1163
Academic Journal
Lopez-Rodriguez, Rosario ; Lantero, Esther ; Blanco-Kelly, Fiona ; Avila-Fernandez, Almudena ; Martin Merida, Inmaculada ; del Pozo-Valero, Marta ; Perea-Romero, Irene ; Zurita, Olga ; Jiménez-Rolando, Belén ; Swafiri, Saoud Tahsin ; Riveiro-Alvarez, Rosa ; Trujillo-Tiebas, María José ; Carreño Salas, Ester ; García-Sandoval, Blanca ; Corton, Marta ; Ayuso, Carmen
In Experimental Eye Research November 2021 212
Academic Journal
Georgiou, Michalis ; Fujinami, Kaoru ; Vincent, Ajoy ; Nasser, Fadi ; Khateb, Samer ; Vargas, Mauricio E. ; Thiadens, Alberta A.H.J. ; de Carvalho, Emanuel R. ; Nguyen, Xuan-Thanh-An ; De Guimarães, Thales Antônio Cabral ; Robson, Anthony G. ; Mahroo, Omar A. ; Pontikos, Nikolas ; Arno, Gavin ; Fujinami-Yokokawa, Yu ; Leo, Shaun Michael ; Liu, Xiao ; Tsunoda, Kazushige ; Hayashi, Takaaki ; Jimenez-Rolando, Belen ; Martin-Merida, Maria Inmaculada ; Avila-Fernandez, Almudena ; Carreño, Ester ; Garcia-Sandoval, Blanca ; Ayuso, Carmen ; Sharon, Dror ; Kohl, Susanne ; Huckfeldt, Rachel M. ; Boon, Camiel J.F. ; Banin, Eyal ; Pennesi, Mark E. ; Wissinger, Bernd ; Webster, Andrew R. ; Héon, Elise ; Khan, Arif O. ; Zrenner, Eberhart ; Michaelides, Michel
In American Journal of Ophthalmology October 2021 230:1-11
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease
Academic Journal
Beigi, Fahimeh ; Del Pozo-Valero, Marta ; Martin-Merida, Inmaculada ; Perea-Romero, Irene ; Manaviat, Masoud Reza ; Ayuso, Carmen ; Ghasemi, Nasrin
In Experimental Eye Research June 2021 207
Academic Journal
Georgiou, Michalis ; Robson, Anthony G. ; Fujinami, Kaoru ; Leo, Shaun M. ; Vincent, Ajoy ; Nasser, Fadi ; Cabral De Guimarães, Thales Antônio ; Khateb, Samer ; Pontikos, Nikolas ; Fujinami-Yokokawa, Yu ; Liu, Xiao ; Tsunoda, Kazushige ; Hayashi, Takaaki ; Vargas, Mauricio E. ; Thiadens, Alberta A.H.J. ; de Carvalho, Emanuel R. ; Nguyen, Xuan-Thanh-An ; Arno, Gavin ; Mahroo, Omar A. ; Martin-Merida, Maria Inmaculada ; Jimenez-Rolando, Belen ; Gordo, Gema ; Carreño, Ester ; Ayuso, Carmen ; Sharon, Dror ; Kohl, Susanne ; Huckfeldt, Rachel M. ; Wissinger, Bernd ; Boon, Camiel J.F. ; Banin, Eyal ; Pennesi, Mark E. ; Khan, Arif O. ; Webster, Andrew R. ; Zrenner, Eberhart ; Héon, Elise ; Michaelides, Michel
In American Journal of Ophthalmology May 2021 225:95-107
Academic Journal
Rimola, Jordi ; Da Fonseca, Leonardo G. ; Sapena, Víctor ; Perelló, Christie ; Guerrero, Antonio ; Simó, Maria Torner ; Pons, Monica ; De La Torre-Aláez, Manuel ; Márquez, Laura ; Calleja, José Luis ; Lledó, José Luis ; Varela, Maria ; Mínguez, Beatriz ; Sangro, Bruno ; Matilla, Ana ; Torres, Ferran ; Ayuso, Carmen ; Bruix, Jordi ; Reig, Maria
In European Journal of Radiology February 2021 135
Academic Journal
González-Quintana, Adrián ; Trujillo-Tiebas, María J. ; Fernández-Perrone, Ana L. ; Blázquez, Alberto ; Lucia, Alejandro ; Morán, María ; Ugalde, Cristina ; Arenas, Joaquín ; Ayuso, Carmen ; Martín, Miguel A.
In Molecular Genetics and Metabolism November 2020 131(3):341-348
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