학술논문
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'학술논문'
에서 검색결과 349건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
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
Scientific Reports. 15(1)
Academic Journal
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P C; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W; Shashi, Vandana; Sullivan, Jennifer A; Peron, Angela; Iascone, Maria; Canevini, Maria P; Friedman, Jennifer; Reyes, Iris A; Kierstein, Janell; Shen, Joseph J; Ahmed, Faria N; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G; Rousseau, Justine; Myers, Kenneth A; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M
Am J Hum Genet
American Journal of Human Genetics, vol 111, iss 7
American Journal of Human Genetics, vol 111, iss 7
Academic Journal
Rodilla, Cristina; Núñez-Moreno, Gonzalo; Benitez, Yolanda; Rodríguez de Alba, Marta; Blanco-Kelly, Fiona; López-Alcojor, Aroa; Fernández-Caballero, Lidia; Perea-Romero, Irene; Del Pozo-Valero, Marta; García-García, Gema; Balanzá, Mar; Villaverde, Cristina; Zurita, Olga; Jubin, Claire; Fund, Cedric; Delepine, Marc; Leduc, Aurelie; Deleuze, Jean-François; Millán, José M.; Minguez, Pablo; Corton, Marta; Ayuso, Carmen
International Journal of Molecular Sciences. April, 2025, Vol. 26 Issue 8
Academic Journal
Raquel Toribio-Fernández; Catarina Tristão-Pereira; Juan Carlos Silla-Castro; Sergio Callejas; Belen Oliva; Irene Fernandez-Nueda; Ines Garcia-Lunar; Cristina Perez-Herreras; José María Ordovás; Pilar Martin; Fiona Blanco-Kelly; Carmen Ayuso; Enrique Lara-Pezzi; Antonio Fernandez-Ortiz; Ana Garcia-Alvarez; Ana Dopazo; Fatima Sanchez-Cabo; Borja Ibanez; Marta Cortes-Canteli; Valentin Fuster
Repisalud
Instituto de Salud Carlos III (ISCIII)
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Instituto de Salud Carlos III (ISCIII)
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
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
Mathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E de Bruijn; Ana Belén Iglesias-Romero; Erica G M Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K Holtes; Stephen H Tsang; Zelia Corradi; K Bailey Freund; Stefanida Shliaga; Daan M Panneman; Rebekkah J Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D N Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Mirella T S Barboni; Miriam Bauwens; Tamar Ben-Yosef; David G Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J F Boon; Kari Branham; Alexis Ceecee Britten-Jones; Kinga M Bujakowska; Elizabeth L Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Peter Charbel Issa; Naomi Chadderton; Luísa Coutinho-Santos; Stephen P Daiger; Elfride De Baere; Berta de la Cerda; John N De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L Duncan; G Jane Farrar; Nicolas Feltgen; Lidia Fernández-Caballero; Juliana M Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C Gardner; Christian Gilissen; Kensuke Goto; Roser Gonzàlez-Duarte; Sam Griffiths-Jones; Tobias B Haack; Lonneke Haer-Wigman; Alison J Hardcastle; Takaaki Hayashi; Elise Héon; Alexander Hoischen; Josephine P Holtan; Carel B Hoyng; Manuel Benjamin B Ibanez; Chris F Inglehearn; Takeshi Iwata; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Krisztina Knézy; Caroline C W Klaver; Robert K Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M Lamey; Bart P Leroy; María Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Rina Leibu; Siying Lin; Petra Liskova; Irma Lopez; Victor R de J López-Rodríguez; Omar A Mahroo; Gaël Manes; Martin McKibbin; Terri L McLaren; Isabelle Meunier; Michel Michaelides; José M Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A Pierce; Emily Place; Raj Ramesar; Florence Andrée Rasquin; Gillian I Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Eddera; Ataf H Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M Santos; Margherita Scarpato; Hendrik P N Scholl; Dror Sharon; Sabrina Giovanna Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Katarina Stingl; Akiko Suga; Lori S Sullivan; Viktória Szabó; Jacek P Szaflik; Gita Taurina; Carmel Toomes; Viet H Tran; Miltiadis K Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Joseph van Aerschot; L. Ingeborgh van den Born; Andrew R Webster; Laura Whelan; Bernd Wissinger; Georgia G Yioti; Kazutoshi Yoshitake; Juan C Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I Jacob; Frans P M Cremers; Winston Lee; Jamie M Ellingford; David Stanek; Carlo Rivolta; Susanne Roosing
medRxiv
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P,Blanco -Kelly , F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones, A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S, Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths-Jones, S, Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones, K, Kalatzis, V, Kamakari, S, Karali, M, Kellner, U, Knézy, K, Klaver, C C W, Koenekoop, R K, Kohl, S, Kominami, T, Kühlewein, L, Lamey, T M, Leroy, B P, Martín-Gutiérrez, M P, Martins, N, Mauring, L, Leibu, R, Lin, S, Liskova, P, Lopez, I, López-Rodríguez, V R D J, Mahroo, O A, Manes, G, McKibbin, M, McLaren, T L, Meunier, I, Michaelides, M, Millán, J M, Mizobuchi, K, Mukherjee, R, Nagy, Z Z, Neveling, K, Ołdak, M, Oorsprong, M, Pan, Y, Papachristou, A, Percesepe, A, Pfau, M, Pierce, E A, Place, E, Ramesar, R, Rasquin, F A, Rice, G I, Roberts, L, Rodríguez-Hidalgo, M, Ruiz-Eddera, J, Sabir, A H, Sajiki, A F, Sánchez-Barbero, A I, Sarma, A S, Sangermano, R, Santos, C M, Scarpato, M, Scholl, H P N, Sharon, D, Signorini, S G, Simonelli, F, Sousa, A B, Stefaniotou, M, Stingl, K, Suga, A, Sullivan, L S, Szabó, V, Szaflik, J P, Taurina, G, Toomes, C, Tran, V H, Tsilimbaris, M K, Tsoka, P, Vaclavik, V, Vajter, M, Valeina, S, Valente, E M, Valentine, C, Valero, R, van Aerschot, J, van den Born, L I, Webster, A R, Whelan, L, Wissinger, B, Yioti, G G, Yoshitake, K, Zenteno, J C, Zeuli, R, Zuleger, T, Landau, C, Jacob, A I, Cremers, F P M, Lee, W, Ellingford, J M, Stanek, D, Rivolta, C & Roosing, S 2025 'De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa' medRxiv, medRxiv. https://doi.org/10.1101/2025.01.06.24317169
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S H, Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P,
Academic Journal
Cristina Rodilla; Inmaculada Martín-Merida; Fiona Blanco-Kelly; María José Trujillo-Tiebas; Almudena Avila-Fernandez; Rosa Riveiro-Alvarez; Marta del Pozo-Valero; Irene Perea-Romero; Saoud Tahsin Swafiri; Olga Zurita; Cristina Villaverde; Miguel Ángel López; Raquel Romero; Ionut Florin Iancu; Gonzalo Núñez-Moreno; Belén Jiménez-Rolando; María Pilar Martin-Gutierrez; Ester Carreño; Pablo Minguez; Blanca García-Sandoval; Carmen Ayuso; Marta Corton
American Journal of Ophthalmology. 254:87-103
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
Yeşim Kesim; Fabiola Ceroni; Alejandra Damián; Fiona Blanco‐Kelly; Carmen Ayuso; Kathy Williamson; Véronique Paquis‐Flucklinger; Dorine A. Bax; Julie Plaisancié; Claudine Rieubland; Mostafa Chamlal; Marta Cortón; Nicolas Chassaing; Patrick Calvas; Nicola Ragge
Eur J Hum Genet
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra;Blanco -Kelly , Fiona ; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1175-1180. Springer Nature 10.1038/s41431-023-01342-8
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra;
Academic Journal
Francisco, Martínez-Granero; Elena, Martínez-Cayuelas; Cristina, Rodilla; Gonzalo, Núñez-Moreno; Marta, Rodríguez de Alba; Fiona, Blanco-Kelly; Raquel, Romero; Pablo, Minguez; Carmen, Ayuso; Isabel, Lorda-Sanchez; Marta, Corton; Berta, Almoguera
Clinical Genetics. 103:448-452
Academic Journal
Natalia Lorenzana-Blanco; Belen Jimenez-Rolando; Blanca Garcia-Sandoval; Fiona Blanco-Kelly; Almudena Avila-Fernandez; Inmaculada Martin-Merida; Milagros Garcia-Ferreira; Silvia Campos-Seco; Carmen Ayuso; Ester Carreño
European Journal of Ophthalmology. 33:735-744
Academic Journal
Elena Martinez-Cayuelas; Fiona Blanco-Kelly; Fermina Lopez-Grondona; Saoud Tahsin Swafiri; Rosario Lopez-Rodriguez; Rebeca Losada-Del Pozo; Ignacio Mahillo-Fernandez; Beatriz Moreno; Maria Rodrigo-Moreno; Didac Casas-Alba; Aitor Lopez-Gonzalez; Sixto García-Miñaúr; Maria Ángeles Mori; Marta Pacio-Minguez; Emi Rikeros-Orozco; Fernando Santos-Simarro; Jaime Cruz-Rojo; Juan Francisco Quesada-Espinosa; Maria Teresa Sanchez-Calvin; Jaime Sanchez-del Pozo; Raquel Bernado Fonz; Maria Isidoro-Garcia; Irene Ruiz-Ayucar; Maria Isabel Alvarez-Mora; Raquel Blanco-Lago; Begoña De Azua; Jesus Eiris; Juan Jose Garcia-Peñas; Belen Gil-Fournier; Carmen Gomez-Lado; Nadia Irazabal; Vanessa Lopez-Gonzalez; Irene Madrigal; Ignacio Malaga; Beatriz Martinez-Menendez; Soraya Ramiro-Leon; Maria Garcia-Hoyos; Pablo Prieto-Matos; Javier Lopez-Pison; Sergio Aguilera-Albesa; Sara Alvarez; Alberto Fernández-Jaén; Isabel Llano-Rivas; Blanca Gener-Querol; Carmen Ayuso; Ana Arteche-Lopez; Maria Palomares-Bralo; Anna Cueto-González; Irene Valenzuela; Antonio Martinez-Monseny; Isabel Lorda-Sanchez; Berta Almoguera
JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Academic Journal
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K
European Journal of Human Genetics. 31(10):1196-1198
Academic Journal
Fernández-Caballero, Lidia; Martín-Merida, Inmaculada; Blanco-Kelly, Fiona; Avila-Fernandez, Almudena; Carreño, Ester; Fernandez-San Jose, Patricia; Irigoyen, Cristina; Jimenez-Rolando, Belen; Lopez-Grondona, Fermina; Mahillo, Ignacio; Martin-Gutierrez, María Pilar; Minguez, Pablo; Perea-Romero, Irene; Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Rodilla, Cristina; Rodriguez-Peña, Lidya; Sánchez-Barbero, Ana Isabel; Swafiri, Saoud T.; Trujillo-Tiebas, María José; Zurita, Olga; García-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen
International Journal of Molecular Sciences. March, 2024, Vol. 25 Issue 5
Academic Journal
Alejandra Damian; Fiona Blanco‐Kelly; Alejandra Tamayo; Saoud T. Swafiri; Cristina Villaverde; Carolina Ruiz‐Sánchez; Kálmán Tory; Nóra Szentmáry; Carmen Ayuso; Marta Corton
Acta Ophthalmologica. 102
Academic Journal
Eduardo Calpena; Simon J. McGowan; Fiona Blanco Kelly; Elise Boudry‐Labis; Anne Dieux‐Coeslier; Rachel Harrison; Diana Johnson; Katherine Lachlan; Jenny E. V. Morton; Helen Stewart; Pradeep Vasudevan; Stephen R. F. Twigg; Andrew O. M. Wilkie
Human Mutation. 42:811-817
Academic Journal
Maria Tarilonte; Patricia Ramos; Jennifer Moya; Guilermo Fernandez-Sanz; Fiona Blanco-Kelly; Saoud Tahsin Swafiri; Cristina Villaverde; Raquel Romero; Alejandra Tamayo; Blanca Gener; Patrick Calvas; Carmen Ayuso; Marta Corton
Journal of Medical Genetics. 59:428-437
Academic Journal
Marie Bernkopf; Ummi B. Abdullah; Stephen J. Bush; Katherine A. Wood; Sahar Ghaffari; Eleni Giannoulatou; Nils Koelling; Geoffrey J. Maher; Loïc M. Thibaut; Jonathan Williams; Edward M. Blair; Fiona Blanco Kelly; Angela Bloss; Emma Burkitt-Wright; Natalie Canham; Alexander T. Deng; Abhijit Dixit; Jacqueline Eason; Frances Elmslie; Alice Gardham; Eleanor Hay; Muriel Holder; Tessa Homfray; Jane A. Hurst; Diana Johnson; Wendy D. Jones; Usha Kini; Emma Kivuva; Ajith Kumar; Melissa M. Lees; Harry G. Leitch; Jenny E. V. Morton; Andrea H. Németh; Shwetha Ramachandrappa; Katherine Saunders; Deborah J. Shears; Lucy Side; Miranda Splitt; Alison Stewart; Helen Stewart; Mohnish Suri; Penny Clouston; Robert W. Davies; Andrew O. M. Wilkie; Anne Goriely
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
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[검색어] Blanco-Kelly, Fiona
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