학술논문
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'학술논문'
에서 검색결과 288건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belen; 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; Andreasson, 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.; des Roziers, Cyril Burin; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Issa, Peter Charbel; Coutinho-Santos, Luisa; 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.; Fernandez-Caballero, Lidia; Sallum, Juliana M. Ferraz; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzalez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Heon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, 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.; Knezy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kuehlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; Lopez-Rodriguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gael; Mansard, Luke; Martin-Gutierrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millan, Jose M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltan Zsolt; Neveling, Kornelia; Oldak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andree; Rice, Gillian I.; Roberts, Lisa; Rodriguez-Hidalgo, Maria; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sanchez-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.; Szabo, Viktoria; 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
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,
Academic Journal
Julio C Corral-Serrano; Veronika Vaclavik; Stijn Van de Sompele; Karolina Kaminska; Katarina Jovanovic; Pascal Escher; Filip Van den Broeck; Francesca Cancellieri; Vasileios Toulis; Bart P Leroy; Julie de Zaeytijd; Zhixuan You; Daniele Ottaviani; Mathieu Quinodoz; Gabriela Bordeanu; Alison J Hardcastle; Frauke Coppieters; Viet H Tran; Michael E Cheetham; Carlo Rivolta; Elfride De Baere
Hum Mol Genet
Human molecular genetics, vol. 34, no. 9, pp. 821-834
HUMAN MOLECULAR GENETICS
Human molecular genetics, vol. 34, no. 9, pp. 821-834
HUMAN MOLECULAR GENETICS
Academic Journal
Eline Van Vooren; Filip Van den Broeck; Esperanza Daal; Mehrnaz Ghazvini; Julie De Zaeytijd; Bart P. Leroy; Miriam Bauwens; Elfride De Baere
Stem Cell Research, Vol 89, Iss , Pp 103864- (2025)
Academic Journal
Astrid Roelens; Maria Vandekerckhove; Leen Maes; Cathérine Dekeyser; Dimitri Hemelsoet; Veroniek Van Driessche; Marijke Miatton; Liesbeth Van Hijfte; Julie De Zaeytijd; Tineke Van Vrekhem; Guy Laureys; Helen Van Hoecke
European Archives of Oto-Rhino-Laryngology. 282:1189-1200
Academic Journal
Jason H Peragallo; Nancy J Newman; Valérie Biousse; Jeong-Min Hwang; Francesco Bandello; Ghazala O'Keefe; Julia A Haller; Armin Wolf; Bettina von Livonius; Thomas Klopstock; Celia Chen; Marco Battista; Patrick Yu-Wai-Man; Siegfried Priglinger; Virginia García; Sean Donahue; Scott Ruark; Rima Hussain; Prem S Subramanian; Daniel Muth; Bart P Leroy; Alfredo A Sadun; JAMES ACHESON; Mike Horton; Maria Gemenetzi; Michele Carbonelli; Piero Barboni; Steve Cho; Rod Foroozan; Maria Eleftheriadou; Claudia B Catarino; William R Tucker; Manuela Contin; Robert C Sergott; Mark L Moster; Benson S Chen; Catherine Vignal-Clermont; Rabih Hage; Bart K Chwalisz; Claudia Priglinger; Susan Mohamed; Giulia Amore; Sapna Gangaputra; Sarah Thornton; Jannah Dobbs; Lindreth DuBois; Deborah Gibbs; An-Guor Wang; Valerio Carelli; Rudrani Banik; Magali Taiel; Katy Tai; Maria Lucia Cascavilla; Rustum Karanjia; Stephan Thurau; Lidia Di Vito; Marc Mathias; Hui-Chen Cheng; Shriji Patel; Angelika Pressler; Günther Rudolph; Stéphanie Perot; Chiara La Morgia; Martina Romagnoli; Sara Silvestri; Pietro D'Agati; George Baker Hubbard; Andrew M Hendrick; Michael Dattilo; Eman Hawy; Alcides Fernandes Filho; Andre Aung; Hayley Boston; Simona Esposti; Lauren Leitch-Devlin; Neringa Jurkute; Asma Burale; Shweta Anand; Muhammad A Memon; Rasha Jorany; Priyansha Sheel; Melissa SantaMaria; Heather Tollis; Adam A DeBusk; Maria Massini; Paula Pecen; Mary Preston; José A Sahel; Jean François Girmens; Lise Plaine; Wahiba Khemliche; Chuanbin Sun; Megan Barrett; Saige Wilkins; Julie De Zaeytijd; Caroline Van Cauwenbergh; Hilde Verhauwen; Jasmina Al-Tamami; Cosima Schertler; Martin Hildebrandt; Michael Neuenhahn; Gad Heilweil; Irena Tsui; Gema Rebolleda Fernández; Laia Jaumendreu Urquijo; Francisco J Muñoz Negrete; Elizabeth Fortin; Dean Cestari; Lorena Castillo; Antonio Morilla; Francesca Calcagno; Adelaide Pina; Stéphanie Leruez
BMJ Open Ophthalmology, Vol 10, Iss 1 (2025)
Academic Journal
Lisa Dangreau; Mohammad J. Hosen; Julie De Zaeytijd; Bart P. Leroy; Paul J. Coucke; Olivier M. Vanakker
Curr Issues Mol Biol
Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)
CURRENT ISSUES IN MOLECULAR BIOLOGY
Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)
CURRENT ISSUES IN MOLECULAR BIOLOGY
Academic Journal
Lieselot Vincke; Kristof Van Schil; Hamid Ahmadieh; Afrooz Moghaddasi; Hamideh Sabbaghi; Narsis Daftarian; Tahmineh Motevasseli; Leila Javanparast Sheykhani; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Julie De Zaeytijd; Marieke De Bruyne; Quinten Mahieu; Ebrahim Al-Hajj; Marta Del Pozo-Valero; Toon Rosseel; Mattias Van Heetvelde; Reza Maroofian; Fatemeh Suri; Miriam Bauwens; Elfride De Baere
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-9 (2025)
Academic Journal
Jonathan Hensman; Leo C. Hahn; Mary J. van Schooneveld; Roselie M.H. Diederen; Jacoline B. ten Brink; Ralph J. Florijn; Arthur A. Bergen; Ine Strubbe; Pam Heutinck; Maria M. van Genderen; L. Ingeborgh van den Born; Alberta A. Thiadens; Julie de Zaeytijd; Bart P. Leroy; Carel B. Hoyng; Camiel J.F. Boon
Hensman, J, Hahn, L C, van Schooneveld, M J, Diederen, R M H, Ten Brink, J B, Florijn, R J, Bergen, A A, Strubbe, I, Heutinck, P, van Genderen, M M, van den Born, L I, Thiadens, A A, de Zaeytijd , J, Leroy, B P, Hoyng, C B & Boon, C J F 2023, 'Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis', Ophthalmology Retina. https://doi.org/10.1016/j.oret.2023.12.003
Ophthalmology Retina, 8, 6, pp. 600-606
Ophthalmology Retina, 8, 6, pp. 600-606
Academic Journal
De Landsheer, Cédric; Merlevede, Valentien; Jacobs, Celine; Van Dorpe, Jo; De Zaeytijd, Julie; Ninclaus, Virginie; Roels, Dimitri
Case Rep Ophthalmol
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 212-219 (2024)
CASE REPORTS IN OPHTHALMOLOGY
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 212-219 (2024)
CASE REPORTS IN OPHTHALMOLOGY
Academic Journal
Eline Van Vooren; Filip Van den Broeck; Quinten Mahieu; Eline Geens; Mattias Van Heetvelde; Marieke De Bruyne; Stijn Van de Sompele; Sheetal Uppal; Eugenia Poliakov; Claire-Marie Dhaenens; Cheryl Y. Gregory-Evans; Lies Hoefsloot; Adriana Iglesias Gonzalez; Susanne Kohl; Theresia Zuleger; Tanguy Demaret; Sari Tuupanen; Joke Ruys; Luc Van Os; Elise Platteau; Julie Jacob; Sascha Vermeer; Laurence Postelmans; Karin Dahan; Isabelle Maystadt; Florence Rasquin; Alberta A.H.J. Thiadens; Kirk A.J. Stephenson; Narin Sheri; Vasily Smirnov; Ian M. MacDonald; Kevin Gregory-Evans; T. Michael Redmond; Julie De Zaeytijd; Bart P. Leroy; Miriam Bauwens; Elfride De Baere
Academic Journal
Cansu de Muijnck; Lonneke Haer-Wigman; Judith A. M. van Everdingen; Tanya Lushchyk; Pam A. T. Heutinck; Marieke F. van Dooren; Anneke J. A. Kievit; Virginie J. M. Verhoeven; Marleen E. H. Simon; Rosemarie A. Wasmann; Irene C. Notting; Elfride De Baere; Sophie Walraedt; Julie De Zaeytijd; Filip Van den Broeck; Bart P. Leroy; Camiel J. F. Boon; Maria M. van Genderen
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Academic Journal
Balfoort, Berith M.; van den Broeck, Filip; Boon, Camiel J. F.; Brouwers, Martijn C. G. J.; Diederen, Roselie M. H.; Dhillon, Preet; ten Asbroek, Anneloor L. M. A.; Bergen, Arthur A.; Brands, Marion M.; Buijs, Mark J. N.; Ferdinandusse, Sacha; Houtkooper, Riekelt H.; van Karnebeek, Clara D. M.; Schultink, Patrick; Timmer, Corrie; Vaz, Frédéric M.; Wagenmakers, Margreet A. E. M.; Wanders, Ronald J. A.; Waterham, Hans R.; Wijburg, Frits; van Hasselt, Peter M.; Jaeger, Bregje; Karuntu, Jessica S.; Rennings, Alexander J. M.; van Spronsen, Francjan J.; de Zaeytijd, Julie; Leroy, Bart P.; Schulze, Andreas; van Karnebeek, Clara D.
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, 48, 1
Journal of Inherited Metabolic Disease, 48, 1
Academic Journal
Van de Sompele, Stijn; Small, Kent W.; Cicekdal, Munevver Burcu; Soriano, Víctor López; D’haene, Eva; Shaya, Fadi S.; Agemy, Steven; Van der Snickt, Thijs; Rey, Alfredo Dueñas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A.; Boon, Camiel J.F.; De Zaeytijd, Julie; Inglehearn, Chris F.; Kousal, Bohdan; Leroy, Bart P.; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J.; Gómez-Skarmeta, José Luis; Tena, Juan J.; Martinez-Morales, Juan R.; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride
Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superiorde Investigaciones Científicas (CSIC)
vande Sompele, S, Small, K W, Cicekdal, M B, Soriano, V C L P, D'haene, E, Shaya, F S, Agemy, S, van der Snickt, T, Rey, A D, Rosseel, T, van Heetvelde, M, Vergult, S, Balikova, I, Bergen, A A, Boon, C J F, de Zaeytijd , J, Inglehearn, C F, Kousal, B, Leroy, B P, Rivolta, C, Vaclavik, V, van den Ende, J, van Schooneveld, M J, Gómez-Skarmeta, J L, Tena, J J, Martinez-Morales, J R, Liskova, P, Vleminckx, K & de Baere, E 2022, 'Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy', American journal of human genetics, vol. 109, no. 11, pp. 2029-2048. https://doi.org/10.1016/j.ajhg.2022.09.013
American journal of human genetics, vol. 109, no. 11, pp. 2029-2048
The American journal of human genetics
AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior
van
American journal of human genetics, vol. 109, no. 11, pp. 2029-2048
The American journal of human genetics
AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Academic Journal
Alfredo Dueñas Rey; Marta del Pozo Valero; Manon Bouckaert; Katherine A Wood; Filip Van den Broeck; Malena Daich Varela; Huw B Thomas; Mattias Van Heetvelde; Marieke De Bruyne; Stijn Van de Sompele; Miriam Bauwens; Hanne Lenaerts; Quinten Mahieu; Dragana Josifova; Genomics England Research Consortium; Carlo Rivolta; Raymond T O’Keefe; Jamie Ellingford; Andrew R Webster; Gavin Arno; Carmen Ayuso; Julie De Zaeytijd; Bart P Leroy; Elfride De Baere; Frauke Coppieters
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Academic Journal
Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y.; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A. H. J.; Stephenson, Kirk A. J.; Sheri, Narin; Smirnov, Vasily; Macdonald, Ian M.; Gregory-Evans, Kevin; Redmond, T. Michael; De Zaeytijd, Julie; Leroy, Bart P.; Bauwens, Miriam; De Baere, Elfride; Dominant RPE65 p E519K Consortium
Academic Journal
Marziali, Elisa; van den Broeck, Filip; Bargiacchi, Sara; Fortunato, Pina; Caputo, Roberto; Sodi, Andrea; de Zaeytijd, Julie; Murro, Vittoria; Mucciolo, Dario; Giorgio, Dario; Passerini, Ilaria; Palazzo, Viviana; Francesca, Peluso; de Baere, Elfride; Zeitz, Christina; Leroy, Bart; Secci, Jacopo; Bacci, Giacomo
OPHTHALMIC GENETICS
Academic Journal
Valerio Carelli; Nancy J. Newman; Patrick Yu-Wai-Man; Valerie Biousse; Mark L. Moster; Prem S. Subramanian; Catherine Vignal-Clermont; An-Guor Wang; Sean P. Donahue; Bart P. Leroy; Robert C. Sergott; Thomas Klopstock; Alfredo A. Sadun; Gema Rebolleda Fernández; Bart K. Chwalisz; Rudrani Banik; Jean François Girmens; Chiara La Morgia; Adam A. DeBusk; Neringa Jurkute; Claudia Priglinger; Rustum Karanjia; Constant Josse; Julie Salzmann; François Montestruc; Michel Roux; Magali Taiel; José-Alain Sahel; Piero Barboni; Michele Carbonelli; Lidia Di Vito; Giulia Amore; Manuela Contin; Susan Mohamed; Sara Silvestri; Pietro D’Agati; Nancy J Newman; Valérie Biousse; George Baker Hubbard; Ghazala O’Keefe; Andrew M. Hendrick; Michael Dattilo; Jason H. Peragallo; Eman Hawy; Lindreth DuBois; Deborah Gibbs; Alcides Fernandes Filho; Jannah Dobbs; James Acheson; Hayley Boston; Maria Eleftheriadou; Simona Esposti; Maria Gemenetzi; Lauren Leitch-Devlin; William R. Tucker; Asma Burale; Shweta Anand; Muhammad A. Memon; Rima Hussain; Rasha Jorany; Priyansha Sheel; Melissa SantaMaria; Heather Tollis; Adam A DeBusk; Julia A. Haller; Maria Massini; Paula Pecen; Marc Mathias; Mary Preston; Steve Cho; José A. Sahel; Rabih Hage; Lise Plaine; Wahiba Khemliche; Hui-Chen Cheng; Celia Chen; Jeong-Min Hwang; Chuanbin Sun; Sean Donahue; Shriji Patel; Sapna Gangaputra; Megan Barrett; Scott Ruark; Saige Wilkins; Julie De Zaeytijd; Caroline Van Cauwenbergh; Hilde Verhauwen; Claudia B. Catarino; Siegfried Priglinger; Günther Rudolph; Stephan Thurau von Livonius Bettina; Daniel Muth; Armin Wolf; Jasmina Al-Tamami; Angelika Pressler; Cosima Schertler; Martin Hildebrandt; Michael Neuenhahn; Gad Heilweil; Irena Tsui; Laia Jaumendreu Urquijo; Francisco J. Negrete Muñoz; Elizabeth Fortin; Dean Cestari; Katy Tai; Lorena Castillo; Virginia Garcia; Antonio Morilla Francesco Bandello; Maria Lucia Cascavilla; Marco Battista; Francesca Calcagno; Adelaide Pina; Stéphanie Leruez; Rod Forooza
Ophthalmol Ther
Ophthalmology and therapy 12(1), 401-429 (2023). doi:10.1007/s40123-022-00611-x
Ophthalmology and Therapy, vol 12, iss 1
OPHTHALMOLOGY AND THERAPY
Ophthalmology and therapy 12(1), 401-429 (2023). doi:10.1007/s40123-022-00611-x
Ophthalmology and Therapy, vol 12, iss 1
OPHTHALMOLOGY AND THERAPY
Academic Journal
Lien Alluyn; Laure Dequeker; Siska Dhaese; Alejandra Consejo; Julie De Zaeytijd; Bart P. Leroy; Julie De Backer; Elke O. Kreps
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidadde Zaragoza
Universidad
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