학술논문
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'학술논문'
에서 검색결과 18건 | 목록
1~20
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
Ann O’Connell; Julia Zhu; Kirk A.J. Stephenson; Laura Whelan; Adrian Dockery; Jacqueline Turner; James J. O’Byrne; G. Jane Farrar; David Keegan
Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 1015-1023 (2022)
Academic Journal
Zelia Corradi; Mubeen Khan; Rebekkah Hitti-Malin; Ketan Mishra; Laura Whelan; Stéphanie S. Cornelis; Carel B. Hoyng; Kati Kämpjärvi; Caroline C.W. Klaver; Petra Liskova; Heidi Stöhr; Bernhard H.F. Weber; Sandro Banfi; G. Jane Farrar; Dror Sharon; Jana Zernant; Rando Allikmets; Claire-Marie Dhaenens; Frans P.M. Cremers
HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)
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
Kirk A. J. Stephenson; Julia Zhu; Niamh Wynne; Adrian Dockery; Rebecca M. Cairns; Emma Duignan; Laura Whelan; Conor P. Malone; Hilary Dempsey; Karen Collins; Shana Routledge; Rajiv Pandey; Elaine Crossan; Jacqueline Turner; James J. O’Byrne; Laura Brady; Giuliana Silvestri; Paul F. Kenna; G. Jane Farrar; David J. Keegan
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Academic Journal
2025 IEEE 53rd Photovoltaic Specialists Conference (PVSC). :0460-0462
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, 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
Academic Journal
Hedwig M. Velde; Janine Reurink; Sebastian Held; Catherina H. Z. Li; Suzanne Yzer; Jaap Oostrik; Jack Weeda; Lonneke Haer-Wigman; Helger G. Yntema; Susanne Roosing; Laurenz Pauleikhoff; Clemens Lange; Laura Whelan; Adrian Dockery; Julia Zhu; David J. Keegan; G. Jane Farrar; Hannie Kremer; Cornelis P. Lanting; Markus Damme; Ronald J. E. Pennings
Hum Genet
Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 11, pp. 1723-1738
Academic Journal
Abdul Rehman Farooq; Clodagh Keohane; Maeve Crowley; Laura Whelan; Neasa Gallwey; Claire Brady; Seamus O'Reilly
Current Cancer Reports. 4:133-138
Academic Journal
Anna R. Ridgeway; Ciara Shortall; Laura K. Finnegan; Róisín Long; Evan Matthews; Adrian Dockery; Ella Kopčić; Laura Whelan; Claire Kirk; Giuliana Silvestri; Jacqueline Turner; David J. Keegan; Sophia Millington-Ward; Naomi Chadderton; Emma Duignan; Paul F. Kenna; G. Jane Farrar
Genes (Basel)
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
Int J Mol Sci
International journal of molecular sciences
Ireland
Switzerland
International journal of molecular sciences
Ireland
Switzerland
Academic Journal
Laura Whelan; Adrian Dockery; Niamh Wynne; Julia Zhu; Kirk Stephenson; Giuliana Silvestri; Jacqueline Turner; James J. O’Byrne; Matthew Carrigan; Peter Humphries; David Keegan; Paul F. Kenna; G. Jane Farrar
Genes (Basel)
Genes
Volume 11
Issue 1
Genes
Volume 11
Issue 1
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