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1دورية أكاديمية
المؤلفون: Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-21 (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, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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2دورية أكاديمية
المؤلفون: Dueñas Rey, Alfredo, del Pozo Valero, Marta, Bouckaert, Manon, Wood, Katherine A., Van Den Broeck, Filip, Varela, Malena Daich, Thomas, Huw B., Van Heetvelde, Mattias, De Bruyne, Marieke, Van de Sompele, Stijn, Bauwens, Miriam, Lenaerts, Hanne, Mahieu, Quinten, Josifova, Dragana, Rivolta, Carlo, O'Keefe, Raymond T., Ellingford, Jamie, Webster, Andrew R., Arno, Gavin, Ayuso, Carmen, De Zaeytijd, Julie, Leroy, Bart, De Baere, Elfride, Coppieters, Frauke, Res Consortium, Genomics England
المصدر: GENOME MEDICINE ; ISSN: 1756-994X
مصطلحات موضوعية: Medicine and Health Sciences, Inherited retinal disease (IRD), Functional studies, Variant interpretation, In silico prioritization, Whole exome sequencing (WES), Whole genome sequencing (WGS), Non-coding variation, Upstream open reading frame (uORF), 5'untranslated region (5'UTR)
وصف الملف: application/pdf
العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YBTest; http://hdl.handle.net/1854/LU-01HQ8ET64RWXPQ0S3K3SWFZ2YBTest; http://doi.org/10.1186/s13073-023-01277-1Test; https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YB/file/01HQ8ETSYHQB9K3CMCEEZ6TAKWTest
الإتاحة: https://doi.org/10.1186/s13073-023-01277-1Test
https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YBTest
http://hdl.handle.net/1854/LU-01HQ8ET64RWXPQ0S3K3SWFZ2YBTest
https://biblio.ugent.be/publication/01HQ8ET64RWXPQ0S3K3SWFZ2YB/file/01HQ8ETSYHQB9K3CMCEEZ6TAKWTest -
3دورية أكاديمية
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
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186119Test/
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4دورية أكاديمية
المؤلفون: Noveski P, Plaseski T, Dimitrovska M, Plaseska-Karanfilska D
المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 51-56 (2023)
مصطلحات موضوعية: androgen insensitivity syndrome (ais), 5′utr variant, upstream open reading frames (uorfs), non-coding variation, mosaicism, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2199-5761Test
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5دورية أكاديمية
المؤلفون: Emma Bohn, Tammy T. Y. Lau, Omar Wagih, Tehmina Masud, Daniele Merico
المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)
مصطلحات موضوعية: deep learning, non-coding variation, rare disease, untranslated region (UTR), variant classification, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1257550/fullTest; https://doaj.org/toc/2296-889XTest
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6دورية أكاديمية
المؤلفون: Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: Variant interpretation, Non-coding variation, Gene regulation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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7كتاب
المؤلفون: Ellingford, J. M., Ahn, J. W., Bagnall, R. D., Baralle, D., Barton, S., Campbell, C., Downes, K., Ellard, S., Duff-Farrier, C., FitzPatrick, D. R., Greally, J. M., Ingles, J., Krishnan, N., Lord, J., Martin, H. C., Newman, W. G., O'Donnell-Luria, A., Ramsden, S. C., Rehm, H. L., Richardson, E., Singer-Berk, M., Taylor, J. C., Williams, M., Wood, J. C., Wright, C. F., Harrison, S. M., Whiffin, N.
مصطلحات موضوعية: Genetic Variation, Genome, Genome-Wide Association Study, Open Reading Frames, Regulatory Sequences, Nucleic Acid, Gene regulation, Non-coding variation, Variant interpretation
العلاقة: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01073-3Test; Genome Med. 2022 Jul 19;14(1):73. doi:10.1186/s13073-022-01073-3.; Genome medicine; PMC9295495; https://hdl.handle.net/11287/622684Test
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8دورية أكاديمية
المؤلفون: Anaïs Le Nabec, Mégane Collobert, Cédric Le Maréchal, Rémi Marianowski, Claude Férec, Stéphanie Moisan
المصدر: Genes; Volume 12; Issue 8; Pages: 1267
مصطلحات موضوعية: WGS, DFNB1, deafness, variants, functional assays, cCRE, non-coding variation
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081267Test
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9دورية أكاديمية
المؤلفون: Ohnmacht, Jochen, May, Patrick, Sinkkonen, Lasse, Krüger, Rejko
المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB), Department of Life Sciences and Medicine (DLSM)
المصدر: Journal of Neural Transmission (2020-04-04)
مصطلحات موضوعية: Gene regulation, Genetic modifier, Genetic susceptibility, Genome-wide association studies, Non-coding variation, Parkinson’s disease, Polygenic risk scores, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
العلاقة: info:eu-repo/grantAgreement/EC/H2020/692320; https://link.springer.com/article/10.1007/s00702-020-02184-0Test; urn:issn:1435-1463; https://orbilu.uni.lu/handle/10993/43016Test; info:hdl:10993/43016; https://orbilu.uni.lu/bitstream/10993/43016/1/Ohnmacht2020_Article_MissingHeritabilityInParkinson.pdfTest; scopus-id:2-s2.0-85082955024; info:pmid:32248367; wos:000523410300002
الإتاحة: https://doi.org/10.1007/s00702-020-02184-0Test
https://orbilu.uni.lu/handle/10993/43016Test
https://orbilu.uni.lu/bitstream/10993/43016/1/Ohnmacht2020_Article_MissingHeritabilityInParkinson.pdfTest -
10دورية أكاديمية
المؤلفون: Katherine E. Tansey, Darren Cameron, Matthew J. Hill
المصدر: Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: Alzheimer’s disease, GWAS, Transcription factor, Non-coding variation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-018-0523-8Test; https://doaj.org/toc/1756-994XTest
النص الكامل