학술논문
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공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
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불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
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- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
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- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 30건 | 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
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
Lonneke Haer-Wigman; Amber den Ouden; Ronny Derks; Maria M. van Genderen; Dorien Lugtenberg; Joke Verheij; Raymon Vijzelaar; Helger G. Yntema; Lisenka E. L. M. Vissers; Kornelia Neveling
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-4 (2024)
Academic Journal
Wouter Steyaert; Lonneke Haer-Wigman; Rolph Pfundt; Debby Hellebrekers; Marloes Steehouwer; Juliet Hampstead; Elke de Boer; Alexander Stegmann; Helger Yntema; Erik-Jan Kamsteeg; Han Brunner; Alexander Hoischen; Christian Gilissen
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Academic Journal
Lonneke Haer-Wigman; Amber den Ouden; Maria M. van Genderen; Hester Y. Kroes; Joke Verheij; Dzenita Smailhodzic; Attje S. Hoekstra; Raymon Vijzelaar; Jan Blom; Ronny Derks; Menno Tjon-Pon-Fong; Helger G. Yntema; Marcel R. Nelen; Lisenka E.L.M. Vissers; Dorien Lugtenberg; Kornelia Neveling
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Academic Journal
Janine Reurink; Erik de Vrieze; Catherina H. Z. Li; Emma van Berkel; Sanne Broekman; Marco Aben; Theo Peters; Jaap Oostrik; Kornelia Neveling; Hanka Venselaar; Mariana Guimarães Ramos; Christian Gilissen; Galuh D. N. Astuti; Jordi Corominas Galbany; Janneke J. C. van Lith-Verhoeven; Charlotte W. Ockeloen; Lonneke Haer-Wigman; Carel B. Hoyng; Frans P. M. Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wijk
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
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
Graeme C. Black; Panagiotis Sergouniotis; Andrea Sodi; Bart P. Leroy; Caroline Van Cauwenbergh; Petra Liskova; Karen Grønskov; Artur Klett; Susanne Kohl; Gita Taurina; Marius Sukys; Lonneke Haer-Wigman; Katarzyna Nowomiejska; João Pedro Marques; Dorothée Leroux; Frans P. M. Cremers; Elfride De Baere; Hélène Dollfus; ERN-EYE study group
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Academic Journal
Zeinab Fadaie; Kornelia Neveling; Tuomo Mantere; Ronny Derks; Lonneke Haer-Wigman; Amber den Ouden; Michael Kwint; Luke O’Gorman; Dyon Valkenburg; Carel B. Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Marcel Nelen; Frans P.M. Cremers; Alexander Hoischen; Susanne Roosing
HGG Advances, Vol 2, Iss 4, Pp 100046- (2021)
Academic Journal
Maleeha Maria; Muhammad Ajmal; Maleeha Azam; Nadia Khalida Waheed; Sorath Noorani Siddiqui; Bilal Mustafa; Humaira Ayub; Liaqat Ali; Shakeel Ahmad; Shazia Micheal; Alamdar Hussain; Syed Tahir Abbas Shah; Syeda Hafiza Benish Ali; Waqas Ahmed; Yar Muhammad Khan; Anneke I den Hollander; Lonneke Haer-Wigman; Rob W J Collin; Muhammad Imran Khan; Raheel Qamar; Frans P M Cremers
PLoS ONE, Vol 10, Iss 3, p e0119806 (2015)
Academic Journal
Gaby Schobers; Maartje Pennings; Juliette de Vries; Michael Kwint; Jeroen van Reeuwijk; Jordi Corominas Galbany; Ronald van Beek; Eveline Kamping; Raoul Timmermans; Erik-Jan Kamsteeg; Lonneke Haer-Wigman; Frans P. M. Cremers; Susanne Roosing; Christian Gilissen; Hannie Kremer; Han G. Brunner; Helger G. Yntema; Lisenka E. L. M. Vissers
European Journal of Human Genetics, 33, 1, pp. 56-64
Academic Journal
Gunnar Houge; Eirik Bratland; Ingvild Aukrust; Kristian Tveten; Gabrielė Žukauskaitė; Ivona Sansovic; Alejandro J. Brea-Fernández; Karin Mayer; Teija Paakkola; Caoimhe McKenna; William Wright; Milica Keckarevic Markovic; Dorte L. Lildballe; Michal Konecny; Thomas Smol; Pia Alhopuro; Estelle Arnaud Gouttenoire; Katharina Obeid; Albena Todorova; Milena Jankovic; Joanna M. Lubieniecka; Maja Stojiljkovic; Marie-Pierre Buisine; Bjørn Ivar Haukanes; Marie Lorans; Hanno Roomere; François M. Petit; Maria K. Haanpää; Claire Beneteau; Belén Pérez; Dijana Plaseska-Karanfilska; Matthias Rath; Nico Fuhrmann; Bibiana I. Ferreira; Coralea Stephanou; Wenche Sjursen; Aleš Maver; Cécile Rouzier; Adela Chirita-Emandi; João Gonçalves; Wei Cheng David Kuek; Martin Broly; Lonneke Haer-Wigman; Meow-Keong Thong; Sok-Kun Tae; Michaela Hyblova; Johan T. den Dunnen; Andreas Laner
Eur J Hum Genet
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
European Journal of Human Genetics
European Journal of Human Genetics, 32, 7, pp. 858-863
Houge, G, Bratland, E, Aukrust, I, Tveten, K, Žukauskaitė, G, Sansovic, I, Brea-Fernández, A J, Mayer, K, Paakkola, T, McKenna, C, Wright, W, Markovic, M K, Lildballe, D L, Konecny, M, Smol, T, Alhopuro, P, Gouttenoire, E A, Obeid, K, Todorova, A, Jankovic, M, Lubieniecka, J M, Stojiljkovic, M, Buisine, M P, Haukanes, B I, Lorans, M, Roomere, H, Petit, F M, Haanpää, M K, Beneteau, C, Pérez, B, Plaseska-Karanfilska, D, Rath, M, Fuhrmann, N, Ferreira, B I, Stephanou, C, Sjursen, W, Maver, A, Rouzier, C, Chirita-Emandi, A, Gonçalves, J, Kuek, W C D, Broly, M, Haer-Wigman, L, Thong, M K, Tae, S K, Hyblova, M, den Dunnen, J T & Laner, A 2024, 'Comparison of the ABC and ACMG systems for variant classification', European Journal of Human Genetics, vol. 32, no. 7, pp. 858-863. https://doi.org/10.1038/s41431-024-01617-8
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
European Journal of Human Genetics
European Journal of Human Genetics, 32, 7, pp. 858-863
Houge, G, Bratland, E, Aukrust, I, Tveten, K, Žukauskaitė, G, Sansovic, I, Brea-Fernández, A J, Mayer, K, Paakkola, T, McKenna, C, Wright, W, Markovic, M K, Lildballe, D L, Konecny, M, Smol, T, Alhopuro, P, Gouttenoire, E A, Obeid, K, Todorova, A, Jankovic, M, Lubieniecka, J M, Stojiljkovic, M, Buisine, M P, Haukanes, B I, Lorans, M, Roomere, H, Petit, F M, Haanpää, M K, Beneteau, C, Pérez, B, Plaseska-Karanfilska, D, Rath, M, Fuhrmann, N, Ferreira, B I, Stephanou, C, Sjursen, W, Maver, A, Rouzier, C, Chirita-Emandi, A, Gonçalves, J, Kuek, W C D, Broly, M, Haer-Wigman, L, Thong, M K, Tae, S K, Hyblova, M, den Dunnen, J T & Laner, A 2024, 'Comparison of the ABC and ACMG systems for variant classification', European Journal of Human Genetics, vol. 32, no. 7, pp. 858-863. https://doi.org/10.1038/s41431-024-01617-8
Academic Journal
Brett M. Colbert; Cris Lanting; Molly Smeal; Susan Blanton; Derek M. Dykxhoorn; Pei-Ciao Tang; Richard L. Getchell; Hedwig Velde; Mirthe Fehrmann; Ryan Thorpe; Prem Chapagain; Heidy Elkhaligy; Hannie Kremer; Helger Yntema; Lonneke Haer-Wigman; Shelby Redfield; Tieqi Sun; Saskia Bruijn; Astrid Plomp; Thadé Goderie; Jiddeke van de Kamp; Rolien H. Free; Jolien Klein Wassink-Ruiter; Josine Widdershoven; Els Vanhoutte; Liselotte Rotteveel; Marjolein Kriek; Marieke van Dooren; Lies Hoefsloot; Heriette H. W. de Gier; M. F. van Dooren; S. G. Kant; H. H. W. de Gier; E. H. Hoefsloot; M. P. van der Schroeff; L. J. C. Rotteveel; F. G. Ropers; M. Kriek; E. Aten; J. C. C. Widdershoven; J. R. Hof; K. Hellingman; V. Vernimmen; H. Kremer; R. J. E. Pennings; I. Feenstra; C. P. Lanting; H. G. Yntema; F. L. J. Cals; L. Haer-Wigman; R. H. Free; J. S. Klein Wassink-Ruiter; A. L. Smit; M. J. van den Boogaard; A. M. A. Lachmeier; J. J. Smits; F. A. Ebbens; S. M. Maas; A. Plomp; T. P. M. Goderie; P. Merkus; J. van de Kamp; Amanda Schaefer; Diana Kolbe; Hela Azaiez; Grace Rabie; Armal Aburayyan; Mariana Kawas; Moien Kanaan; Jourdan Holder; Shin-ichi Usami; Zhengyi Chen; Pu Dai; Jeffrey Holt; Rick Nelson; Byung Yoon Choi; Eliot Shearer; Richard J. H. Smith; Ronald Pennings; Xue Zhong Liu
Hum Genet
Colbert, B M, Lanting, C, Smeal, M, Blanton, S, Dykxhoorn, D M, Tang, P-C, Getchell, R L, Velde, H, Fehrmann, M, Thorpe, R, Chapagain, P, Elkhaligy, H, Kremer, H, Yntema, H, Haer-Wigman, L, Redfield, S, Sun, T, Bruijn, S, Plomp, A, Goderie, T, van de Kamp, J, Free, R H, Wassink-Ruiter, J K, Widdershoven, J, Vanhoutte, E, Rotteveel, L, Kriek, M, van Dooren, M, Hoefsloot, L, de Gier, H H W, Schaefer, A, Kolbe, D, Azaiez, H, Rabie, G, Aburayyan, A, Kawas, M, Kanaan, M, Holder, J, Usami, S-I, Chen, Z, Dai, P, Holt, J, Nelson, R, Choi, B Y, Shearer, E, Smith, R J H, Pennings, R & Liu, X Z 2024, 'The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss : an international, multi-center, cohort analysis', Human Genetics, vol. 143, no. 5, pp. 721-734. https://doi.org/10.1007/s00439-024-02648-3
Human Genetics, 143, 5, pp. 721-734
Colbert, B M, Lanting, C, Smeal, M, Blanton, S, Dykxhoorn, D M, Tang, P-C, Getchell, R L, Velde, H, Fehrmann, M, Thorpe, R, Chapagain, P, Elkhaligy, H, Kremer, H, Yntema, H, Haer-Wigman, L, Redfield, S, Sun, T, Bruijn, S, Plomp, A, Goderie, T, van de Kamp, J, Free, R H, Wassink-Ruiter, J K, Widdershoven, J, Vanhoutte, E, Rotteveel, L, Kriek, M, van Dooren, M, Hoefsloot, L, de Gier, H H W, Schaefer, A, Kolbe, D, Azaiez, H, Rabie, G, Aburayyan, A, Kawas, M, Kanaan, M, Holder, J, Usami, S-I, Chen, Z, Dai, P, Holt, J, Nelson, R, Choi, B Y, Shearer, E, Smith, R J H, Pennings, R & Liu, X Z 2024, 'The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss : an international, multi-center, cohort analysis', Human Genetics, vol. 143, no. 5, pp. 721-734. https://doi.org/10.1007/s00439-024-02648-3
Human Genetics, 143, 5, pp. 721-734
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
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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
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