المؤلفون: Beau J. Fenner, Jonathan F. Russell, Arlene V. Drack, Alina V. Dumitrescu, Elliott H. Sohn, Stephen R. Russell, H. Culver Boldt, Louisa M. Affatigato, Jeremy M. Hoffmann, Jeaneen L. Andorf, Edwin M. Stone, Ian C. Han

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: retina, genetics, inherited eye disease, retinoschisis, retinal detachment, gene therapy, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2023.1204095/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/76e26a92aacb4127a7bd34e7fd209facTest

المؤلفون: Rebecca Procopio, Jose S. Pulido, Kammi B. Gunton, Zeba A. Syed, Daniel Lee, Mark L. Moster, Robert Sergott, Julie A. Neidich, Margaret M. Reynolds

المصدر: Genes; Volume 14; Issue 3; Pages: 738

مصطلحات موضوعية: inherited eye disease, panel testing, congenital glaucoma, retinal dystrophy, congenital cataract, hereditary optic neuropathy, anterior segment dysgenesis

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14030738Test

الإتاحة: https://doi.org/10.3390/genes14030738Test

المؤلفون: Porter, Louise

مصطلحات موضوعية: 617.7, brittle cornea syndrome, inherited eye disease, ZNF469, PRDM5, keratoconus

الوصول الحر: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.686742Test

المؤلفون: Dabin Moon, Hye Won Park, Dongheon Surl, Dongju Won, Seung-Tae Lee, Saeam Shin, Jong Rak Choi, Jinu Han

المصدر: Genes; Volume 13; Issue 1; Pages: 27

مصطلحات موضوعية: precision medicine, inherited eye disease, next-generation sequencing, genetic testing

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13010027Test

الإتاحة: https://doi.org/10.3390/genes13010027Test

المؤلفون: Yu Zhang, Sijian Huang, Huiming Xiao, Xiaoyan Ding

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

مصطلحات موضوعية: genetic testing, genetics, inherited eye disease, knowledge, parents, pediatrics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/47ba28b030f24f07b50f6252edcfb290Test

المؤلفون: Green, David J., Sallah, Shalaw R., Ellingford, Jamie M., Lovell, Simon C., Sergouniotis, Panagiotis I.

المصدر: Green , D J , Sallah , S R , Ellingford , J M , Lovell , S C & Sergouniotis , P I 2020 , ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ' , Genes , vol. 11 , no. 2 , 179 . https://doi.org/10.3390/genes11020179Test

مصطلحات موضوعية: Incomplete penetrance, Inherited eye disease, Inherited retinal disease, Variable expressivity

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3390/genes11020179Test
https://research.manchester.ac.uk/en/publications/191e34f5-d2b6-4fa2-bfb5-8beeb528de30Test
https://pure.manchester.ac.uk/ws/files/160582779/genes_11_00179.pdfTest
http://www.scopus.com/inward/record.url?scp=85079339083&partnerID=8YFLogxKTest

المؤلفون: Covello, Giuseppina, Rossello, Fernando J, Filosi, Michele, Gajardo, Felipe, Duchemin, Anne-Laure, Tremonti, Beatrice F, Eichenlaub, Michael, Polo, Jose M, Powell, David, Ngai, John, Allende, Miguel L, Domenici, Enrico, Ramialison, Mirana, Poggi, Lucia

المساهمون: Covello, Giuseppina, Rossello, Fernando J, Filosi, Michele, Gajardo, Felipe, Duchemin, Anne-Laure, Tremonti, Beatrice F, Eichenlaub, Michael, Polo, Jose M, Powell, David, Ngai, John, Allende, Miguel L, Domenici, Enrico, Ramialison, Mirana, Poggi, Lucia

مصطلحات موضوعية: Ath5, human retina, inherited eye disease, retinal ganglion cell, transcriptome analysis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32676583; info:eu-repo/semantics/altIdentifier/wos/WOS:000754783000005; volume:2; issue:7; firstpage:434; lastpage:448; numberofpages:15; journal:FASEB BIOADVANCES; http://hdl.handle.net/11572/273095Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106243522

الإتاحة: https://doi.org/10.1096/fba.2020-00030Test
http://hdl.handle.net/11572/273095Test

المؤلفون: Méjécase, C, Malka, S, Guan, Z, Slater, A, Arno, G, Moosajee, M

المصدر: Therapeutic Advances in Ophthalmology , 12 pp. 1-28. (2020)

مصطلحات موضوعية: family planning, genetic counselling, genetic screening, inherited eye disease, next generation sequencing, whole exome sequencing and whole genome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10111416/1/2515841420954592.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10111416Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10111416/1/2515841420954592.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10111416Test/

المؤلفون: David J. Green, Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, Panagiotis I. Sergouniotis

المصدر: Genes; Volume 11; Issue 2; Pages: 179

مصطلحات موضوعية: inherited eye disease, inherited retinal disease, variable expressivity, incomplete penetrance

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11020179Test

الإتاحة: https://doi.org/10.3390/genes11020179Test

المؤلفون: Laura Whelan, Adrian Dockery, Niamh Wynne, Julia Zhu, Kirk Stephenson, Giuliana Silvestri, Jacqueline Turner, James J. O’Byrne, Matthew Carrigan, Peter Humphries, David Keegan, Paul F. Kenna, G. Jane Farrar

المصدر: Genes; Volume 11; Issue 1; Pages: 105

مصطلحات موضوعية: inherited eye disease, ophthalmic genetics, genomics, next generation sequencing, retinopathy, rare variants, novel variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11010105Test

الإتاحة: https://doi.org/10.3390/genes11010105Test