학술논문
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'학술논문'
에서 검색결과 39건 | 목록
1~20
Academic Journal
Suzanne E. de Bruijn; L. Ingeborgh van den Born; Ronny Derks; Lonneke Haer-Wigman; Luke O’Gorman; Frans P. M. Cremers; Ronald van Beek; Alexander Hoischen; Susanne Roosing; Kornelia Neveling
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-5 (2025)
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
Janine Reurink; Nicole Weisschuh; Alejandro Garanto; Adrian Dockery; L. Ingeborgh van den Born; Isabelle Fajardy; Lonneke Haer-Wigman; Susanne Kohl; Bernd Wissinger; G. Jane Farrar; Tamar Ben-Yosef; Fatma Kivrak Pfiffner; Wolfgang Berger; Marianna E. Weener; Lubica Dudakova; Petra Liskova; Dror Sharon; Manar Salameh; Ashley Offenheim; Elise Heon; Giorgia Girotto; Paolo Gasparini; Anna Morgan; Arthur A. Bergen; Jacoline B. ten Brink; Caroline C.W. Klaver; Lisbeth Tranebjærg; Nanna D. Rendtorff; Sascha Vermeer; Jeroen J. Smits; Ronald J.E. Pennings; Marco Aben; Jaap Oostrik; Galuh D.N. Astuti; Jordi Corominas Galbany; Hester Y. Kroes; Milan Phan; Wendy A.G. van Zelst-Stams; Alberta A.H.J. Thiadens; Joke B.G.M. Verheij; Mary J. van Schooneveld; Suzanne E. de Bruijn; Catherina H.Z. Li; Carel B. Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Frans P.M. Cremers; Hannie Kremer; Erwin van Wijk; Susanne Roosing
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Academic Journal
Rebekkah J. Hitti-Malin; Daan M. Panneman; Zelia Corradi; Erica G. M. Boonen; Galuh Astuti; Claire-Marie Dhaenens; Heidi Stöhr; Bernhard H. F. Weber; Dror Sharon; Eyal Banin; Marianthi Karali; Sandro Banfi; Tamar Ben-Yosef; Damjan Glavač; G. Jane Farrar; Carmen Ayuso; Petra Liskova; Lubica Dudakova; Marie Vajter; Monika Ołdak; Jacek P. Szaflik; Anna Matynia; Michael B. Gorin; Kati Kämpjärvi; Miriam Bauwens; Elfride De Baere; Carel B. Hoyng; Catherina H. Z. Li; Caroline C. W. Klaver; Chris F. Inglehearn; Kaoru Fujinami; Carlo Rivolta; Rando Allikmets; Jana Zernant; Winston Lee; Osvaldo L. Podhajcer; Ana Fakin; Jana Sajovic; Alaa AlTalbishi; Sandra Valeina; Gita Taurina; Andrea L. Vincent; Lisa Roberts; Raj Ramesar; Giovanna Sartor; Elena Luppi; Susan M. Downes; L. Ingeborgh van den Born; Terri L. McLaren; John N. De Roach; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Anna M. Tracewska; Smaragda Kamakari; Juliana Maria Ferraz Sallum; Hanno J. Bolz; Hülya Kayserili; Susanne Roosing; Frans P. M. Cremers
Biomolecules, Vol 14, Iss 3, p 367 (2024)
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
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
Jessica S. Karuntu; Xuan‐Thanh‐An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Maria M. van Genderen; Nicoline E. Schalij‐Delfos; Caroline C. W. Klaver; Magda A. Meester‐Smoor; L. Ingeborgh van den Born; Carel B. Hoyng; Alberta A. H. J. Thiadens; Arthur A. Bergen; Ruth M. A. van Nispen; Camiel J. F. Boon
Karuntu, J S, Nguyen, X-T-A, Talib, M, van Schooneveld, M J, Wijnholds, J, van Genderen, M M, Schalij-Delfos, N E, Klaver, C C W, Meester-Smoor, M A, van den Born, L I, Hoyng, C B, Thiadens, A A H J, Bergen, A A, van Nispen, R M A & Boon, C J F 2023, 'Quality of life in patients with CRB1-associated retinal dystrophies : A longitudinal study', Acta Ophthalmologica. https://doi.org/10.1111/aos.15769
Acta Ophthalmologica (2008), 102, 4, pp. 469-477
Acta Ophthalmologica (2008), 102, 4, pp. 469-477
Academic Journal
Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Bram Gerritsen; Jutta Lintelmann; Alexander Cecil; L. Ingeborgh van den Born; Xuan-Thanh-An Nguyen; Camiel J.F. Boon; Maria M. van Genderen; Jonas J.W. Kuiper
Ophthalmol Sci
Ophthalmology Science, Vol 5, Iss 4, Pp 100704-(2025)
Ophthalmology Science, Vol 5, Iss 4, Pp 100704-(2025)
Academic Journal
Tamar Hayman; Shai Ovadia; Jaya Krishnan; Manon Bouckaert; Daan M. Panneman; Milton English; Johanna Valensi; Frans P.M. Cremers; Tamar Ben Yosef; L. Ingeborgh van den Born; Suzanne E. de Bruijn; Susanne Roosing; Eyal Banin; Samer Khateb; Ruth Ashery-Padan; Frauke Coppieters; Anand Swaroop; Dror Sharon
Genetics in Medicine, 27, 7
Academic Journal
Birgit Lorenz; Joana Tavares; L. Ingeborgh van den Born; João Pedro Marques; Elisabetta Pilotto; Katarina Stingl; Peter Charbel Issa; Dorothée Leroux; Hélène Dollfus; Hendrik P.N. Scholl
Ophthalmic Research. :727-748
Academic Journal
Birgit Lorenz; Joana Tavares; L. Ingeborgh van den Born; João Pedro Marques; Elisabetta Pilotto; Katarina Stingl; Peter Charbel Issa; Dorothée Leroux; Hélène Dollfus; Hendrik P.N. Scholl
Ophthalmic Research. :550-568
Academic Journal
Sander Wooning; Pam A.T. Heutinck; Kubra Liman; Sem Hennekam; Manon van Haute; Filip van den Broeck; Bart Leroy; Danuta M. Sampson; Danial Roshandel; Fred K. Chen; Daniel M. Pelt; L. Ingeborgh van den Born; Virginie J.M. Verhoeven; Caroline C.W. Klaver; Alberta A.H.J. Thiadens; Marine Durand; Nicolas Chateau; Theo van Walsum; Danilo Andrade De Jesus; Luisa Sanchez Brea
Ophthalmol Sci
Ophthalmology Science, Vol 5, Iss 3, Pp 100675-(2025)
Ophthalmology Science, 5, 3
Ophthalmology Science, Vol 5, Iss 3, Pp 100675-(2025)
Ophthalmology Science, 5, 3
Academic Journal
Runhart, E.H.; Valkenburg, D.; Cornelis, S.S.; Khan, M.; Albert, S.; Bax, N.M.; Gilissen, C.; Cremers, F.P.M.; Hoyng, C.B.; Sangermano, R.; Astuti, G.D.N.; Blokland, E.A.W.; Pott, J.-W.R.; Verheij, J.B.G.M.; Ingeborgh van den Born, L.
In: Investigative Ophthalmology and Visual Science . (Investigative Ophthalmology and Visual Science, 1 October 2019, 60(13):4249-4256)
Academic Journal
Leo C. Hahn; Mary J. van Schooneveld; Nieneke L. Wesseling; Ralph J. Florijn; Jacoline B. ten Brink; Birgit I. Lissenberg-Witte; Ine Strubbe; Magda A. Meester-Smoor; Alberta A. Thiadens; Roselie M. Diederen; Caroline van Cauwenbergh; Julie de Zaeytijd; Sophie Walraedt; Elfride de Baere; Caroline C.W. Klaver; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel B. Hoyng; Maria M. van Genderen; Paul A. Sieving; Bart P. Leroy; Arthur A. Bergen; Camiel J.F. Boon
Ophthalmology. 129:191-202
Academic Journal
De Bruijn, S.E.; Kremer, H.; Cremers, F.P.M.; Roosing, S.; Verbakel, S.K.; De Vrieze, E.; Hoyng, C.B.; Ingeborgh Van Den Born, L.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 October 2018, 55(10):705-712)
Academic Journal
Valkenburg, D.; Klaver, C.C.W.; Hoyng, C.B.; Collin, R.W.J.; van Cauwenbergh, C.; de Zaeytijd, J.; Leroy, B.P.; Coppieters, F.; Lorenz, B.; Preising, M.; van Genderen, M.M.; Bertelsen, M.; Pott, J.-W.R.; Thiadens, A.A.H.J.; Kroes, H.Y.; van Schooneveld, M.J.; Ingeborgh van den Born, L.
In: Investigative Ophthalmology and Visual Science . (Investigative Ophthalmology and Visual Science, September 2018, 59(11):4384-4391)
Academic Journal
Sangermano, R.; Khan, M.; Cornelis, S.S.; Richelle, V.; Albert, S.; Garanto, A.; Elmelik, D.; Lugtenberg, D.; Collin, R.W.J.; Cremers, F.P.M.; Qamar, R.; Ingeborgh van den Born, L.
In: Genome Research . (Genome Research, January 2018, 28(1):100-110)
Academic Journal
Hendriks, M.; Ingeborgh van den Born, L.; Verhoeven, V.J.M.; Buitendijk, G.H.S.; Polling, J.R.; Meester-Smoor, M.A.; Klaver, C.C.W.; Hofman, A.; Kamermans, M.; van Huet, R.A.; Klevering, B.J.; Bax, N.M.; Lambertus, S.; Hoyng, C.B.; Oomen, C.J.; van Zelst-Stams, W.A.; Cremers, F.P.; Plomp, A.S.; van Schooneveld, M.J.; van Genderen, M.M.; Schuil, J.; Boonstra, F.N.; Schlingemann, R.O.; Bergen, A.A.; Pierrache, L.; Meester-Smoor, M.; van den Born, L.I.; Boon, C.J.; Pott, J.W.R.; van Leeuwen, R.; Kroes, H.Y.
In: American Journal of Ophthalmology . (American Journal of Ophthalmology, October 2017, 182:81-89)
Academic Journal
Roosing, S.; Cremers, F.P.M.; Zonneveld-Vrieling, M.N.; Den Hollander, A.I.; Riemslag, F.C.C.; Talsma, H.E.; Ingeborgh van den Born, L.; Klessens-Godfroy, F.J.M.
In: Genes . (Genes, 22 August 2017, 8(8))
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[AR] L. Ingeborgh van den Born
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