المؤلفون: Dong S, Tsao N, Hou Q, Bozkaya D, Leroy BP

المصدر: Clinical Ophthalmology, Vol Volume 15, Pp 3459-3465 (2021)

مصطلحات موضوعية: vision loss, inherited retinal dystrophy, claims data, health economics, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.dovepress.com/us-health-resource-utilization-and-cost-burden-associated-with-choroid-peer-reviewed-fulltext-article-OPTH; https://doaj.org/toc/1177-5483

URL الوصول: https://doaj.org/article/5a224d5ba1ae4d9aa385f41d82c0c681

المؤلفون: Aleman TS, Miller AJ, Maguire KH, Aleman EM, Serrano LW, O'Connor KB, Bedoukian EC, Leroy BP, Maguire AM, Bennett J

المصدر: Clinical Ophthalmology, Vol Volume 15, Pp 939-952 (2021)

مصطلحات موضوعية: virtual reality, mobility, orientation, gene therapy, lca, rpe65, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-virtual-reality-orientation-and-mobility-test-for-inherited-retinal--peer-reviewed-article-OPTH; https://doaj.org/toc/1177-5483

URL الوصول: https://doaj.org/article/400aba714cfe4b78b045bc5bef8c3a88

المؤلفون: Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, KA, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, LB, Klopstock, T, Rivolta, C, Leroy, BP, De Baere, E, Coppieters, F

المصدر: Human mutation. 41(5):998-1011

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142967805

المؤلفون: Dueñas Rey, A, del Pozo Valero, M, Bouckaert, M, Wood, KA, Van den Broeck, F, Varela, MD, Thomas, HB, Van Heetvelde, M, De Bruyne, M, Van de Sompele, S, Bauwens, M, Lenaerts, H, Mahieu, Q, Josifova, D, Rivolta, C, O’Keefe, RT, Ellingford, J, Webster, AR, Arno, G, Ayuso, C, De Zaeytijd, J, Leroy, BP, De Baere, E, Coppieters, F

المصدر: Genome Medicine , 16 (1) , Article 7. (2024)

مصطلحات موضوعية: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Variant interpretation, Functional studies, Inherited retinal disease (IRD)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdf; https://discovery.ucl.ac.uk/id/eprint/10186119/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdf
https://discovery.ucl.ac.uk/id/eprint/10186119/

المؤلفون: Hoornaert, KP, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, FA, Leroy, JG, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dieux-Coeslier, A, Dollfus, H, Elting, M, Green, A, Guerci, VI, Hennekam, RCM, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, KJ, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, YH, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, KOJ, Smithson, SF, Temple, KI, Van Aken, E, Van Bever, Y, van den Ende, J, Van Hagen, JM, Zelante, L, Zordania, R, De Paepe, A, Leroy, BP, De Buyzere, M, Coucke, PJ, Mortier, GR

المصدر: European journal of human genetics : EJHG. 18(8):872-880

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:121050081

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Tran, HV, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf; Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

الاتاحة: https://eprints.whiterose.ac.uk/196829/
https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf

المؤلفون: Hahn, LC, Georgiou, M, Almushattat, H, van Schooneveld, MJ, de Carvalho, ER, Wesseling, NL, Ten Brink, JB, Florijn, RJ, Lissenberg-Witte, BI, Strubbe, I, van Cauwenbergh, C, de Zaeytijd, J, Walraedt, S, de Baere, E, Mukherjee, R, McKibbin, M, Meester-Smoor, MA, Thiadens, AAHJ, Al-Khuzaei, S, Akyol, E, Lotery, AJ, van Genderen, MM, Norel, JO-V, Ingeborgh van den Born, L, Hoyng, CB, Klaver, CCW, Downes, SM, Bergen, AA, Leroy, BP, Michaelides, M, Boon, CJF

Relation: https://ora.ox.ac.uk/objects/uuid:c78cc16c-9d3b-4278-b2ff-05fb745c2ab3; https://doi.org/10.1016/j.oret.2022.03.008

الاتاحة: https://doi.org/10.1016/j.oret.2022.03.008
https://ora.ox.ac.uk/objects/uuid:c78cc16c-9d3b-4278-b2ff-05fb745c2ab3

المؤلفون: Van de Sompele, S, Small, KW, Cicekdal, MB, Soriano, VL, D'haene, E, Shaya, FS, Agemy, S, Van der Snickt, T, Rey, AD, Rosseel, T, Van Heetvelde, M, Vergult, S, Balikova, I, Bergen, AA, Boon, CJF, De Zaeytijd, J, Inglehearn, CF, Kousal, B, Leroy, BP, Rivolta, C, Vaclavik, V, van den Ende, J, van Schooneveld, MJ, Gómez-Skarmeta, JL, Tena, JJ, Martinez-Morales, JR, Liskova, P, Vleminckx, K, De Baere, E

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/192823/1/PIIS0002929722004463.pdf; Van de Sompele, S, Small, KW, Cicekdal, MB et al. (26 more authors) (2022) Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. American Journal of Human Genetics, 109 (11). pp. 2029-2048. ISSN 0002-9297

الاتاحة: https://eprints.whiterose.ac.uk/192823/
https://eprints.whiterose.ac.uk/192823/1/PIIS0002929722004463.pdf

المؤلفون: Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H, ERN_EYE Study Group, Suppiej, Agnese, Parmeggiani, Francesco

المساهمون: Black, Gc, Sergouniotis, P, Sodi, A, Leroy, Bp, Van Cauwenbergh, C, Liskova, P, Grønskov, K, Klett, A, Kohl, S, Taurina, G, Sukys, M, Haer-Wigman, L, Nowomiejska, K, Marques, Jp, Leroux, D, Cremers, Fpm, De Baere, E, Dollfus, H, ERN_EYE Study, Group, Suppiej, Agnese, Parmeggiani, Francesco

مصطلحات موضوعية: ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseases

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33743793; info:eu-repo/semantics/altIdentifier/wos/WOS:000631539300005; volume:16; issue:1; firstpage:142; lastpage:149; numberofpages:8; journal:ORPHANET JOURNAL OF RARE DISEASES; info:eu-repo/grantAgreement/EC/H2020/739534; http://hdl.handle.net/11392/2455701; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103229807; https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-x

الاتاحة: http://hdl.handle.net/11392/2455701
https://doi.org/10.1186/s13023-021-01756-x
https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-x

المؤلفون: Moore, Anthony, Thomas, MG, Crosier, M, Lindsay, S, Kumar, A, Araki, M, Leroy, BP, McLean, RJ, Sheth, V, Maconachie, G, Thomas, S

URL الوصول: https://escholarship.org/uc/item/57k3p18f

المؤلفون: Nguyen, XTA, Talib, M, Van Cauwenbergh, C, van Schooneveld, MJ, Fiocco, M, Wijnholds, J, Brink, JB, Florijn, RJ, Schalij-Delfos, NE, Dagnelie, G, van Genderen, MM, De Baere, E, Smoor, Magda, de Zaeytijd, J, Balikova, I, Thiadens, Alberta, Hoyng, CB, Klaver, Caroline, van den Born, LI, Bergen, A, Leroy, BP, Boon, CJF

المصدر: Nguyen , XTA , Talib , M , Van Cauwenbergh , C , van Schooneveld , MJ , Fiocco , M , Wijnholds , J , Brink , JB , Florijn , RJ , Schalij-Delfos , NE , Dagnelie , G , van Genderen , MM , De Baere , E , Smoor , M , de Zaeytijd , J , Balikova , I , Thiadens , A , Hoyng , CB , Klaver , C , van den Born , LI , Bergen , A , Leroy , BP & Boon , CJF 2021 , ' CLINICAL CHARACTERISTICS ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/bf532aac-b821-4057-a668-e5873dafc18b
https://doi.org/10.1097/IAE.0000000000002808
http://www.scopus.com/inward/record.url?scp=85091447612&partnerID=8YFLogxK

المؤلفون: Xuan-Thanh-An, N, Almushattat, H, Strubbe, I, Georgiou, M, Li, CHZ, van Schooneveld, MJ, Joniau, I, De Baere, E, Florijn, RJ, Bergen, AA, Hoyng, CB, Michaelides, M, Leroy, BP, Boon, CJF

المصدر: Genes , 12 (9) , Article 1404. (2021)

مصطلحات موضوعية: PHARC syndrome, ABHD12, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract, MUTATIONS

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10135806/1/Michaelides_genes-12-01404.pdf; https://discovery.ucl.ac.uk/id/eprint/10135806/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10135806/1/Michaelides_genes-12-01404.pdf
https://discovery.ucl.ac.uk/id/eprint/10135806/

المؤلفون: Black, GC, Sergouniotis, P, Sodi, A, Leroy, BP, Van Cauwenbergh, C, Liskova, P, Grønskov, K, Klett, A, Kohl, S, Taurina, G, Sukys, M, Haer-Wigman, L, Nowomiejska, K, Marques, JP, Leroux, D, Cremers, FPM, De Baere, E, Dollfus, H

المصدر: Orphanet Journal of Rare Diseases , 16 , Article 142. (2021)

مصطلحات موضوعية: Genetic and genomic testing, Rare eye diseases, ERN-EYE, Position statement

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10129343/1/The%20need%20for%20widely%20available%20genomic%20testing%20in%20rare%20eye%20diseases%20an%20ERN-EYE%20position%20statement.pdf; https://discovery.ucl.ac.uk/id/eprint/10129343/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10129343/1/The%20need%20for%20widely%20available%20genomic%20testing%20in%20rare%20eye%20diseases%20an%20ERN-EYE%20position%20statement.pdf
https://discovery.ucl.ac.uk/id/eprint/10129343/

المؤلفون: Poulter, JA, Gravett, MSC, Taylor, RL, Fujinami, K, De Zaeytijd, J, Bellingham, J, Rehman, AU, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere, E, Leroy, BP, Davies, NP, Henderson, RH, Webster, AR, Rivolta, C, Mahroo, OA, Arno, G, Black, GCM, McKibbin, M, Harris, SA, Khan, KN, Inglehearn, CF

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/168583/7/humu.24140.pdf; Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176 , Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794

الاتاحة: https://eprints.whiterose.ac.uk/168583/
https://eprints.whiterose.ac.uk/168583/7/humu.24140.pdf

المؤلفون: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, HélèneAshworth JL, Audo I, Balciuniene VJ, Banin E, Black GC, Böhringer D, Boon CJF, Bremond-Gignac D, Calvas P, Castela G, Dagnelie G, Dollfus H, Downes SM, Fasolo A, Fasser C, Gelzinis A, Goetz K, Hamann S, Héon E, Iarossi G, Kawasaki A, Keegan D, Kessel L, Khan K, Klett A, Köhler S, Leroux D, Leroy BP, Lisch W, Liskova P, Lorenz B, Maggi R, Maxime E, Meunier I, Mohand-Said S, Nowomiejska K, Perdomo Y, Petzold A, Preising M, Robinson PN, Scholl HPN, Sergouniotis PI, Sodi A, Stingl K, Studer F, Suppiej A, Thompson R, Touitou V, Traboulsi E, Trumpaitis J, Tuft SJ, Vaclavik V, Valeina S, Van Cauwenbergh C, Verloes A, Vighetto A, Wheeler R, Wheeler-Schilling T, Yu-Wai-Man P, Zobor D, Zrenner E.

المساهمون: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélèneashworth, Jl, Audo, I, Balciuniene, Vj, Banin, E, Black, Gc, Böhringer, D, Boon, Cjf, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Dollfus, H, Downes, Sm, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Héon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Köhler, S, Leroux, D, Leroy, Bp, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Maxime, E, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Robinson, Pn, Scholl, Hpn, Sergouniotis, Pi, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Thompson, R, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, Sj, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E.

مصطلحات موضوعية: Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30626441; info:eu-repo/semantics/altIdentifier/wos/WOS:000455361900003; volume:14; issue:1; firstpage:8-1; lastpage:8-5; numberofpages:5; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11392/2400086; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059797765; https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0980-6

الاتاحة: http://hdl.handle.net/11392/2400086
https://doi.org/10.1186/s13023-018-0980-6
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0980-6

المؤلفون: Poulter, JA, Gravett, MSC, Taylor, RL, Fujinami, K, De Zaeytijd, J, Bellingham, J, Rehman, AU, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, UK Inherited Retinal Disease Consortium, Genomics England Resear, De Baere, E, Leroy, BP, Davies, NP, Henderson, RH, Webster, AR, Rivolta, C, Mahroo, OA, Arno, G, Black, GCM, McKibbin, M, Harris, SA, Khan, KN, Inglehearn, CF

المصدر: Human Mutation (2020) (In press).

مصطلحات موضوعية: CSNB, GRK1, Oguchi disease, rhodopsin

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10116238/1/humu.24140.pdf; https://discovery.ucl.ac.uk/id/eprint/10116238/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10116238/1/humu.24140.pdf
https://discovery.ucl.ac.uk/id/eprint/10116238/

المؤلفون: Thompson, DA, Iannaccone, A, Ali, RR, Arshavsky, VY, Audo, I, Bainbridge, JWB, Besirli, CG, Birch, DG, Branham, KE, Cideciyan, AV, Daiger, SP, Dalkara, D, Duncan, JL, Fahim, AT, Flannery, JG, Gattegna, R, Heckenlively, JR, Heon, E, Jayasundera, KT, Khan, NW, Klassen, H, Leroy, BP, Molday, RS, Musch, DC, Pennesi, ME, Petersen-Jones, SM, Pierce, EA, Rao, RC, Reh, TA, Sahel, JA, Sharon, D, Sieving, PA, Strettoi, E, Yang, P, Zacks, DN

المصدر: Translational Vision Science and Technology , 9 (7) , Article 2. (2020)

مصطلحات موضوعية: inherited retinal diseases, clinical trials, natural history studies, outcome measures, counseling patients

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10101671/1/i2164-2591-457-1-2146.pdf; https://discovery.ucl.ac.uk/id/eprint/10101671/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10101671/1/i2164-2591-457-1-2146.pdf
https://discovery.ucl.ac.uk/id/eprint/10101671/

المؤلفون: Almoallem, B, Arno, G, De Zaeytijd, J, Verdin, H, Balikova, I, Casteels, I, de Ravel, T, Hull, S, Suzani, M, Destrée, A, Peng, M, Williams, D, Ainsworth, JR, Webster, AR, Leroy, BP, Moore, AT, De Baere, E

المصدر: Scientific Reports , 10 (1) , Article 1289. (2020)

مصطلحات موضوعية: Hereditary eye disease, Molecular medicine

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10091943/1/s41598-019-57338-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10091943/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10091943/1/s41598-019-57338-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10091943/

المؤلفون: Buena-Atienza, E, Ruther, K, Baumann, B, Bergholz, R, Birch, D, De Baere, E, Dollfus, H, Greally, MT, Gustavsson, P, Hamel, CP, Heckenlively, JR, Leroy, BP, Plomp, AS, Pott, JWR, Rose, K, Rosenberg, T, Stark, Z, Verheij, JBGM, Weleber, R, Zobor, D, Weisschuh, N, Kohl, S, Wissinger, B

المصدر: Scientific reports. 6:28253

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133801749

المؤلفون: Sergouniotis, PI, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, PN, Dollfus, H, Ashworth, JL, Audo, I, Balciuniene, VJ, Banin, E, Black, GC, Boehringer, D, Boon, CJF, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Downes, SM, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Heon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Koehler, S, Leroy, BP, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Scholl, HPN, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, SJ, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E

المصدر: Orphanet Journal of Rare Diseases , 14 , Article 8. (2019)

مصطلحات موضوعية: Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10085217/1/An%20ontological%20foundation%20for%20ocular%20phenotypes%20and%20rare%20eye%20diseases.pdf; https://discovery.ucl.ac.uk/id/eprint/10085217/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10085217/1/An%20ontological%20foundation%20for%20ocular%20phenotypes%20and%20rare%20eye%20diseases.pdf
https://discovery.ucl.ac.uk/id/eprint/10085217/