학술논문
'학술논문'
에서 검색결과 5건 | 목록
1~10
Academic Journal
Nuria Suárez-Herrera; Catherina H. Z. Li; Nico Leijsten; Dyah W. Karjosukarso; Zelia Corradi; Femke Bukkems; Lonneke Duijkers; Frans P. M. Cremers; Carel B. Hoyng; Alejandro Garanto; Rob W. J. Collin
Cells, Vol 13, Iss 7, p 601 (2024)
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)
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; 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
Xuan-Thanh-An Nguyen; Hind Almushattat; Ine Strubbe; Michalis Georgiou; Catherina H. Z. Li; Mary J. van Schooneveld; Inge Joniau; Elfride De Baere; Ralph J. Florijn; Arthur A. Bergen; Carel B. Hoyng; Michel Michaelides; Bart P. Leroy; Camiel J. F. Boon
Genes, Vol 12, Iss 9, p 1404 (2021)
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[AR] Catherina H. Z. Li
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