학술논문
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'학술논문'
에서 검색결과 97건 | 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
Esteve-Garcia, Anna; Padró-Miquel, Ariadna; Català-Mora, Jaume; Sau, Cristina; Yubero, Delia; Corradi, Zelia; Cremers, Frans P. M.; Barberán-Martínez, Pilar; Millán, José M.; García-García, Gema; Ismael, Ilyana; Arias, Luis; Cobos, Estefania; Aguilera, Cinthia
Eye: The Scientific Journal of The Royal College of Ophthalmologists. 39(16):2899-2911
Academic Journal
Sander Bervoets; Lonneke Duijkers; Hedwig M. Velde; Zelia Corradi; Edwin M. van Oosten; Nuria Suárez-Herrera; Alejandro Garanto; Miguel A. Moreno-Pelayo; Ronald J.E. Pennings; Rob W.J. Collin; Irene Vázquez-Domínguez
Cellular and Molecular Life Sciences, Vol 83, Iss 1, Pp 1-20 (2026)
Academic Journal
Genes. September, 2025, Vol. 16 Issue 9
Academic Journal
Li, Catherina H.Z. ; Pas, Jeroen A.A.H. ; Corradi, Zelia ; Hitti-Malin, Rebekkah J. ; Hoogstede, Anne ; Runhart, Esmee H. ; Dhooge, Patty P.A. ; Collin, Rob W.J. ; Cremers, Frans P.M. ; Hoyng, Carel B.
In Ophthalmology January 2024 131(1):87-97
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,
Academic Journal
Hum Mol Genet
Human Molecular Genetics, 32, 21, pp. 3078-3089
Human Molecular Genetics
Human Molecular Genetics, 32, 21, pp. 3078-3089
Human Molecular Genetics
Academic Journal
Corradi, Zelia ; Khan, Mubeen ; Hitti-Malin, Rebekkah ; Mishra, Ketan ; Whelan, Laura ; Cornelis, Stéphanie S. ; Hoyng, Carel B. ; Kämpjärvi, Kati ; Klaver, Caroline C.W. ; Liskova, Petra ; Stöhr, Heidi ; Weber, Bernhard H.F. ; Banfi, Sandro ; Farrar, G. Jane ; Sharon, Dror ; Zernant, Jana ; Allikmets, Rando ; Dhaenens, Claire-Marie ; Cremers, Frans P.M.
In Human Genetics and Genomics Advances 12 October 2023 4(4)
Academic Journal
Corradi, Zelia; Dhaenens, Claire-Marie; Grunewald, Olivier; Kocabaş, Ipek Selen; Meunier, Isabelle; Banfi, Sandro; Karali, Marianthi; Cremers, Frans P. M.; Hitti-Malin, Rebekkah J.
International Journal of Molecular Sciences. June, 2024, Vol. 25 Issue 11
Academic Journal
Laura Whelan; Adrian Dockery; Kirk A. J. Stephenson; Julia Zhu; Ella Kopčić; Iris J. M. Post; Mubeen Khan; Zelia Corradi; Niamh Wynne; James J. O’ Byrne; Emma Duignan; Giuliana Silvestri; Susanne Roosing; Frans P. M. Cremers; David J. Keegan; Paul F. Kenna; G. Jane Farrar
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Academic Journal
Suárez-Herrera, Nuria; Li, Catherina H. Z.; Leijsten, Nico; Karjosukarso, Dyah W.; Corradi, Zelia; Bukkems, Femke; Duijkers, Lonneke; Cremers, Frans P. M.; Hoyng, Carel B.; Garanto, Alejandro; Collin, Rob W. J.
Cells. April, 2024, Vol. 13 Issue 7
Academic Journal
Hitti-Malin, Rebekkah J.; Panneman, Daan M.; Corradi, Zelia; Boonen, Erica G. M.; Astuti, Galuh; Dhaenens, Claire-Marie; Stöhr, Heidi; Weber, Bernhard H. F.; Sharon, Dror; Banin, Eyal; Karali, Marianthi; Banfi, Sandro; Ben-Yosef, Tamar; Glavač, Damjan; Farrar, G. Jane; Ayuso, Carmen; Liskova, Petra; Dudakova, Lubica; Vajter, Marie; Ołdak, Monika; Szaflik, Jacek P.; Matynia, Anna; Gorin, Michael B.; Kämpjärvi, Kati; Bauwens, Miriam; De Baere, Elfride; Hoyng, Carel B.; Li, Catherina H. Z.; Klaver, Caroline C. W.; Inglehearn, Chris F.; Fujinami, Kaoru; Rivolta, Carlo; Allikmets, Rando; Zernant, Jana; Lee, Winston; Podhajcer, Osvaldo L.; Fakin, Ana; Sajovic, Jana; AlTalbishi, Alaa; Valeina, Sandra; Taurina, Gita; Vincent, Andrea L.; Roberts, Lisa; Ramesar, Raj; Sartor, Giovanna; Luppi, Elena; Downes, Susan M.; van den Born, L. Ingeborgh; McLaren, Terri L.; De Roach, John N.; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Tracewska, Anna M.; Kamakari, Smaragda; Sallum, Juliana Maria Ferraz; Bolz, Hanno J.; Kayserili, Hülya; Roosing, Susanne; Cremers, Frans P. M.
Biomolecules. March, 2024, Vol. 14 Issue 3
Academic Journal
Cornelis, Stéphanie S. ; Runhart, Esmee H. ; Bauwens, Miriam ; Corradi, Zelia ; De Baere, Elfride ; Roosing, Susanne ; Haer-Wigman, Lonneke ; Dhaenens, Claire-Marie ; Vulto-van Silfhout, Anneke T. ; Cremers, Frans P.M.
In The American Journal of Human Genetics 3 March 2022 109(3):498-507
Academic Journal
María Rodríguez-Hidalgo; Suzanne E. de Bruijn; Zelia Corradi; Kim Rodenburg; Araceli Lara-López; Alicia Valverde-Megías; Almudena Ávila-Fernández; Lidia Fernandez-Caballero; Marta Del Pozo-Valero; Jordi Corominas; Christian Gilissen; Cristina Irigoyen; Frans P. M. Cremers; Carmen Ayuso; Javier Ruiz-Ederra; Susanne Roosing
Front Genet
Frontiers in Genetics, Vol 14 (2023)
Frontiers in Genetics, 14, pp. 1234032
Frontiers in Genetics
Frontiers in Genetics, Vol 14 (2023)
Frontiers in Genetics, 14, pp. 1234032
Frontiers in Genetics
Academic Journal
Zeinab Fadaie; Laura Whelan; Tamar Ben-Yosef; Adrian Dockery; Zelia Corradi; Christian Gilissen; Lonneke Haer-Wigman; Jordi Corominas; Galuh D. N. Astuti; Laura de Rooij; L. Ingeborgh van den Born; Caroline C. W. Klaver; Carel B. Hoyng; Niamh Wynne; Emma S. Duignan; Paul F. Kenna; Frans P. M. Cremers; G. Jane Farrar; Susanne Roosing
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
Academic Journal
Stéphanie S. Cornelis; Joanna IntHout; Esmee H. Runhart; Olivier Grunewald; Siying Lin; Zelia Corradi; Mubeen Khan; Rebekkah J. Hitti-Malin; Laura Whelan; G. Jane Farrar; Dror Sharon; L. Ingeborgh van den Born; Gavin Arno; Mark Simcoe; Michel Michaelides; Andrew R. Webster; Susanne Roosing; Omar A. Mahroo; Claire-Marie Dhaenens; Frans P. M. Cremers; Ala'a AlTalbishi; Carmen Ayuso; Sandro Banfi; Eyal Banin; Tamar Ben-Yosef; Hanno J. Bolz; Adrian Dockery; Susan Downes; Ana Fakin; Michael B. Gorin; Elise Heon; Carel B. Hoyng; Chris F. Inglehearn; Marianthi Karali; Kati Kämpjärvi; Caroline C.W. Klaver; Petra Liskova; Monika Oldak; Astrid S. Plomp; Jana Sajovic; Heidi Stöhr; Jacek P. Szaflik; Alberta A.H.J. Thiadens; Anna M. Tracewska; Marie Vajter; Joke B.G.M. Verheij; Bernhard H.F. Weber
Jama Ophthalmology, 142, 5, pp. 463-471
JAMA Ophthalmology
ABCA4 Study Group 2024, ' Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis ', JAMA Ophthalmology, vol. 142, no. 5, pp. 463-471 . https://doi.org/10.1001/jamaophthalmol.2024.0660
JAMA Ophthalmology
ABCA4 Study Group 2024, ' Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis ', JAMA Ophthalmology, vol. 142, no. 5, pp. 463-471 . https://doi.org/10.1001/jamaophthalmol.2024.0660
Academic Journal
Corradi, Zelia; Hitti-Malin, Rebekkah J.; de Rooij, Laura A.; Garanto, Alejandro; Collin, Rob W. J.; Cremers, Frans P. M.
Academic Journal
Benjamin Mc Clinton; Zelia Corradi; Martin McKibbin; Daan M. Panneman; Susanne Roosing; Erica G. M. Boonen; Manir Ali; Christopher M. Watson; David H. Steel; Frans P. M. Cremers; Chris F. Inglehearn; Rebekkah J. Hitti-Malin; Carmel Toomes
Genes (Basel)
Genes; Volume 14; Issue 1; Pages: 191
Genes, 14, 1
Genes
Genes; Volume 14; Issue 1; Pages: 191
Genes, 14, 1
Genes
Academic Journal
Sajovic, Jana; Meglic, Andrej; Corradi, Zelia; Khan, Mubeen; Maver, Ales; Vidmar, Martina Jarc; Hawlina, Marko; Cremers, Frans P. M.; Fakin, Ana
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