Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
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| Title: | Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies. |
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| Authors: | Del Pozo-Valero M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Riveiro-Alvarez R; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Martin-Merida I; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Blanco-Kelly F; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Swafiri S; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Lorda-Sanchez I; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Trujillo-Tiebas MJ; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Carreño E; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Jimenez-Rolando B; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Garcia-Sandoval B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Corton M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. |
| Source: | Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2022 Feb 01; Vol. 63 (2), pp. 11. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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