학술논문
'학술논문'
에서 검색결과 21건 | 목록
1~10
Academic Journal
Iris Deitch; Sofia Itskov; Daan Panneman; Aasem Abu Shtaya; Tal Saban; Yael Goldberg; Miriam Ehrenberg; Frans P. M. Cremers; Susanne Roosing; Tamar Ben-Yosef
Current Issues in Molecular Biology, Vol 46, Iss 3, Pp 2566-2575 (2024)
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
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
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
Frontiers in Genetics, Vol 14 (2023)
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Academic Journal
Neringa Jurkute; Francesca Cancellieri; Lisa Pohl; Catherina H. Z. Li; Robert A. Heaton; Janine Reurink; James Bellingham; Mathieu Quinodoz; Georgia Yioti; Maria Stefaniotou; Marianna Weener; Theresia Zuleger; Tobias B. Haack; Katarina Stingl; Genomics England Research Consortium; Carel B. Hoyng; Omar A. Mahroo; Iain Hargreaves; F. Lucy Raymond; Michel Michaelides; Carlo Rivolta; Susanne Kohl; Susanne Roosing; Andrew R. Webster; Gavin Arno
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
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
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
Daan M. Panneman; Rebekkah J. Hitti-Malin; Lara K. Holtes; Suzanne E. de Bruijn; Janine Reurink; Erica G. M. Boonen; Muhammad Imran Khan; Manir Ali; Sten Andréasson; Elfride De Baere; Sandro Banfi; Miriam Bauwens; Tamar Ben-Yosef; Béatrice Bocquet; Marieke De Bruyne; Berta de la Cerda; Frauke Coppieters; Pietro Farinelli; Thomas Guignard; Chris F. Inglehearn; Marianthi Karali; Ulrika Kjellström; Robert Koenekoop; Bart de Koning; Bart P. Leroy; Martin McKibbin; Isabelle Meunier; Konstantinos Nikopoulos; Koji M. Nishiguchi; James A. Poulter; Carlo Rivolta; Enrique Rodríguez de la Rúa; Patrick Saunders; Francesca Simonelli; Yasmin Tatour; Francesco Testa; Alberta A. H. J. Thiadens; Carmel Toomes; Anna M. Tracewska; Hoai Viet Tran; Hiroaki Ushida; Veronika Vaclavik; Virginie J. M. Verhoeven; Maartje van de Vorst; Christian Gilissen; Alexander Hoischen; Frans P. M. Cremers; Susanne Roosing
Frontiers in Cell and Developmental Biology, Vol 11 (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
Irene Vázquez-Domínguez; Michael Kwint; Hester Y Kroes; Silvia Albert; Luke O'Gorman; Christian Gilissen; Frans P.M. Cremers; Rob W.J. Collin; Susanne Roosing; Alejandro Garanto
Stem Cell Research, Vol 60, Iss , Pp 102689- (2022)
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