Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lourdes Valdes-Sanchez"'
Autor:
Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J. Diaz-Corrales, Berta de la Cerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicin
Externí odkaz:
https://doaj.org/article/e7abdf515c274b4ab1d3a471f239b1f2
Autor:
Alberto Cañibano-Hernández, Lourdes Valdes-Sanchez, Ana B. Garcia-Delgado, Beatriz Ponte-Zúñiga, Francisco J. Diaz-Corrales, Berta de la Cerda
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102301- (2021)
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of th
Externí odkaz:
https://doaj.org/article/bb3cd6f55a7e4e52a4ca31bad6728f13
Akademický článek
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Publikováno v:
Genomics & Genetics Weekly; 3/15/2024, p1481-1481, 1p
Autor:
Catherine Bowes Rickman, Christian Grimm, Robert E. Anderson, John D. Ash, Matthew M. LaVail, Joe G. Hollyfield
This book contains the proceedings of the XVIII International Symposium on Retinal Degeneration (RD2018). A majority of those who spoke and presented posters at the meeting contributed to this volume. The blinding diseases of inherited retinal degene
