المؤلفون: Xiaoyan Hu, An Ran Ran, Truong X. Nguyen, Simon Szeto, Jason C. Yam, Carmen K. M. Chan, Carol Y. Cheung

المصدر: Ophthalmology and Therapy, Vol 12, Iss 6, Pp 3395-3402 (2023)

مصطلحات موضوعية: Rare eye disease, Generative pretrained transformer, Large language models, Artificial intelligence, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2193-8245Test; https://doaj.org/toc/2193-6528Test

الوصول الحر: https://doaj.org/article/7fdcc54096b543f5a4d578d3a7034876Test

المؤلفون: Mermeklieva E., Vasileva P.

المصدر: Acta Medica Bulgarica, Vol 49, Iss 4, Pp 58-62 (2022)

مصطلحات موضوعية: hereditary retinal dystrophy, central areolar choroidal dystrophy, electrophysiology, rare eye disease, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2719-5384Test

الوصول الحر: https://doaj.org/article/b63c57f303f647a7985ab9e9e741be4dTest

المؤلفون: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)

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

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0980-6Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/f23685f139d44385aa33afa5a33ae3a2Test

المؤلفون: Mermeklieva, E.

المصدر: Български офталмологичен преглед; Vol 64, No 2 (2020); 50-56 ; Bulgarian Review of Ophthalmology; Vol 64, No 2 (2020); 50-56 ; 1311-0624

مصطلحات موضوعية: hereditary retinal dystrophies, gene therapy, rare eye disease

وصف الملف: application/pdf

العلاقة: https://journals.mu-varna.bg/index.php/bro/article/view/7146/6336Test; https://journals.mu-varna.bg/index.php/bro/article/view/7146Test

الإتاحة: https://doi.org/10.14748/bro.v64i2.7146Test
https://journals.mu-varna.bg/index.php/bro/article/view/7146Test

المؤلفون: Sergouniotis, Panagiotis, I, Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter, N, Dollfus, Hélène

المساهمون: University of Manchester Manchester, Plateforme d'information et de services pour les maladies rares et les médicaments orphelins (Orphanet), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Broussais-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Les Hôpitaux Universitaires de Strasbourg (HUS), Newcastle University Newcastle, The Jackson Laboratory for Genomic Medicine, Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), European Project: 0305444(2003)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://ut3-toulouseinp.hal.science/hal-03542066Test ; Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩.

مصطلحات موضوعية: Evidence-based precision medicine, Human phenotype ontology, Orphanet rare disease ontology, Rare eye disease, MESH: Biological Ontologies, MESH: Computational Biology / methods, MESH: Evidence-Based Medicine, MESH: Eye Diseases / classificationHumans Precision Medicine / methods* Rare Diseases / classification, MESH: Humans Precision Medicine / methods, MESH: Rare Diseases / classification, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30626441; info:eu-repo/grantAgreement//0305444/EU/SGER: Algorithmic Challenges in Computational Biology/; hal-03542066; https://ut3-toulouseinp.hal.science/hal-03542066Test; https://ut3-toulouseinp.hal.science/hal-03542066/documentTest; https://ut3-toulouseinp.hal.science/hal-03542066/file/Panagiotis_2019.pdfTest; PUBMED: 30626441; PUBMEDCENTRAL: PMC6327432

الإتاحة: https://doi.org/10.1186/s13023-018-0980-6Test
https://ut3-toulouseinp.hal.science/hal-03542066Test
https://ut3-toulouseinp.hal.science/hal-03542066/documentTest
https://ut3-toulouseinp.hal.science/hal-03542066/file/Panagiotis_2019.pdfTest

المؤلفون: Sergouniotis, Panagiotis I, Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N, Dollfus, Hélène, ERN-EYE Ontology Study Group

مصطلحات موضوعية: Evidence-based precision medicine, Human phenotype ontology, Orphanet rare disease ontology, Rare eye disease, Biological Ontologies, Computational Biology, Evidence-Based Medicine, Eye Diseases, Humans, Precision Medicine, Rare Diseases

وصف الملف: Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/289477Test

الإتاحة: https://doi.org/10.17863/CAM.36727Test
https://www.repository.cam.ac.uk/handle/1810/289477Test

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

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

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

المؤلفون: Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R.

المساهمون: Leroux, Dorothée [0000-0002-1412-6611], Apollo - University of Cambridge Repository, Ophthalmology, ANS - Complex Trait Genetics, Black, G. C., Sergouniotis, P., Sodi, A., Leroy, B. P., Van Cauwenbergh, C., Liskova, P., Gronskov, K., Klett, A., Kohl, S., Taurina, G., Sukys, M., Haer-Wigman, L., Nowomiejska, K., Marques, J. P., Leroux, D., Cremers, F. P. M., De Baere, E., Dollfus, H., Ashworth, J., Audo, I., Bacci, G., Balciuniene, V. J., Bargiacchi, S., Bertelsen, M., Black, G., Boon, C., Bremond-Gignac, D., Buzzonetti, L., Calvas, P., Thomsen, A. C., Chirita-Emandi, A., Chokoshvili, D., Cremers, F., Daly, A., Downes, S., Fasolo, A., Fasser, C., Fischer, D., Fortunato, P., Gelzinis, A., Hall, G., Hamann, S., Heon, E., Iarossi, G., Iberg, C., Jouanjan, G., Kaariainen, H., Kahn, K., Keegan, D., Laengsfeld, M., Leon, A., Leroux, B., Lorenz, B., Maggi, R., Mauring, L., Melico, P., Meunier, I., Mohand-Said, S., Monterosso, C., Morandi, P., Parmeggiani, F., Passerini, I., Pelletier, V., Peluso, F., Perdomo, Y., Rapizzi, E., Roos, L., Roosing, S., Rozet, J. -M., Simonelli, F., Sowden, J., Stingl, K., Suppiej, A., Testa, F., Tracewska, A., Traficante, G., Valeina, S., Wheeler-Schilling, T., Yu-Wai-Man, P., Zeitz, C., Zemaitiene, R.

المصدر: Orphanet journal of rare diseases, 16(1):142. BioMed Central
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases, 16
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16, 1

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, lcsh:Medicine, CHILDREN, Position statement, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], MOLECULAR-GENETICS, 0302 clinical medicine, HISTORY, Health care, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), medicine.diagnostic_test, General Medicine, Genomics, Europe, TRIALS, ERN-EYE, Rare eye diseases, medicine.symptom, Genetic and genomic testing, Human, medicine.medical_specialty, Visual impairment, LEBER CONGENITAL AMAUROSIS, Socio-culturale, DIAGNOSIS, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Intensive care medicine, Genetic testing, business.industry, CLINICAL-FEATURES, lcsh:R, Rare eye disease, Eye Disease, Human genetics, Clinical trial, 030104 developmental biology, Genomic, 030221 ophthalmology & optometry, Personalized medicine, business, Rare disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51c1f1b7c050a66d7033dd369699172Test
https://www.repository.cam.ac.uk/handle/1810/322429Test

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 [0000-0003-0986-4123], Apollo - University of Cambridge Repository, University of Manchester [Manchester], Plateforme d'information et de services pour les maladies rares et les médicaments orphelins (Orphanet), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Broussais-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Newcastle University [Newcastle], The Jackson Laboratory for Genomic Medicine, Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), European Project: 0305444(2003)

المصدر: ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6Test
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14
Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6Test

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Computer science, Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology, lcsh:Medicine, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 030105 genetics & heredity, Ontology (information science), Terminology, NO, Open Biomedical Ontologies, MESH: Eye Diseases / classificationHumans Precision Medicine / methods* Rare Diseases / classification, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Human Phenotype Ontology, Eye Diseases/classification, Humans, Pharmacology (medical), Precision Medicine, Letter to the Editor, MESH: Humans Precision Medicine / methods, Genetics (clinical), Information exchange, Evidence-Based Medicine, Orphanet rare disease ontology, Rare Diseases/classification, MESH: Computational Biology / methods, lcsh:R, Computational Biology, Human phenotype ontology, Biological Ontologies, Precision Medicine/methods, General Medicine, Evidence-based medicine, Rare eye disease, Computational Biology/methods, Data science, MESH: Rare Diseases / classification, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Evidence-based precision medicine, Eye disorder, MESH: Biological Ontologies, MESH: Evidence-Based Medicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840fa6905fa94a0e7ca88a0762068559Test
https://doi.org/10.1186/s13023-018-0980-6Test