Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Víctor López Soriano"'
Autor:
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D’haene, Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A. Bergen, Camiel J. F. Boon, Julie De Zaeytijd, Chris F. Inglehearn, Bohdan Kousal, Bart P. Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary J. van Schooneveld, José Luis Gómez-Skarmeta, Juan J. Tena, Juan R. Martinez-Morales, Petra Liskova, Kris Vleminckx, Elfride De Baere
North Carolina macular dystrophy (NCMD) is a rare autosomal dominant disease affecting macular development. The disease is caused by non-coding single nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79feee9e3f4666cf8b923858f2090fe3
https://doi.org/10.1101/2022.03.08.481329
https://doi.org/10.1101/2022.03.08.481329
Autor:
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Cross-species genome comparisons have revealed a substantial number of ultraconserved non-coding elements (UCNEs). Several of these elements have proved to be essential tissue- and cell type-specific cis-regulators of developmental gene expr
Externí odkaz:
https://doaj.org/article/38cbf5e245e84d6bb6d38d770e602435
Autor:
Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/71dc04aaf10049c79f8782552148860f
Autor:
Eva D’haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martínez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfride De Baere
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-24 (2024)
Abstract Background Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal expression wit
Externí odkaz:
https://doaj.org/article/a3d8d2ce3b6a449b865a48720cdd33d6