المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans

المصدر: Biomolecules. 14(3)

مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest

المؤلفون: D'haene, Eva, Lopez Soriano, Victor, Martínez-García, Pedro Manuel, Kalayanamontri, Soraya, Dueñas Rey, Alfredo, Sousa-Ortega, Ana, Naranjo, Silvia, Van de Sompele, Stijn, Vantomme, Lies, Mahieu, Quinten, Vergult, Sarah, Neto, Ana, Gómez-Skarmeta, José Luis, Martínez-Morales, Juan Ramón, Bauwens, Miriam, Tena, Juan Jesús, De Baere, Elfride

المصدر: GENOME BIOLOGY ; ISSN: 1474-760X

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Enhancer assay, Cis-regulatory element (CRE), ABCA4, Inherited retinal disease (IRD), Retinal pigment epithelium (RPE), Neural retina, UMI-4C, Hi-C, 3D genome structure, HiChIP

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01HYMRNDX2V90R0AH8C5PPAT81Test; http://hdl.handle.net/1854/LU-01HYMRNDX2V90R0AH8C5PPAT81Test; http://doi.org/10.1186/s13059-024-03250-6Test; https://biblio.ugent.be/publication/01HYMRNDX2V90R0AH8C5PPAT81/file/01HYMRQEBAFVTJNTTYFNJSVG0ZTest

الإتاحة: https://doi.org/10.1186/s13059-024-03250-6Test
https://biblio.ugent.be/publication/01HYMRNDX2V90R0AH8C5PPAT81Test
http://hdl.handle.net/1854/LU-01HYMRNDX2V90R0AH8C5PPAT81Test
https://biblio.ugent.be/publication/01HYMRNDX2V90R0AH8C5PPAT81/file/01HYMRQEBAFVTJNTTYFNJSVG0ZTest

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

المؤلفون: Lopez Soriano, Victor, Dueñas Rey, Alfredo, Mukherjee, Rajarshi, Coppieters, Frauke, Bauwens, Miriam, Willaert, Andy, De Baere, Elfride

المصدر: NATURE COMMUNICATIONS ; ISSN: 2041-1723

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, CAROLINA MACULAR DYSTROPHY, NONCODING VARIANTS, ENHANCER, PAX6, MUTATION, DOMAINS, SPECIFICATION, PRIMORDIUM, ZEBRAFISH, DATABASE

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01HTYJ2YFFBJXF1N6CH89E0PE8Test; http://hdl.handle.net/1854/LU-01HTYJ2YFFBJXF1N6CH89E0PE8Test; http://doi.org/10.1038/s41467-024-45381-1Test; https://biblio.ugent.be/publication/01HTYJ2YFFBJXF1N6CH89E0PE8/file/01HTYJ3JSPSMCWVKF72SNEMYC1Test

الإتاحة: https://doi.org/10.1038/s41467-024-45381-1Test
https://biblio.ugent.be/publication/01HTYJ2YFFBJXF1N6CH89E0PE8Test
http://hdl.handle.net/1854/LU-01HTYJ2YFFBJXF1N6CH89E0PE8Test
https://biblio.ugent.be/publication/01HTYJ2YFFBJXF1N6CH89E0PE8/file/01HTYJ3JSPSMCWVKF72SNEMYC1Test

المؤلفون: del Pozo Valero, Marta, Almoallem Mohammed, Basamat, Dueñas Rey, Alfredo, Mahieu, Quinten, Van Heetvelde, Mattias, Jeddawi, Laila, Bauwens, Miriam, De Baere, Elfride

المصدر: CLINICAL GENETICS ; ISSN: 0009-9163 ; ISSN: 1399-0004

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, RIMS2, retina-enriched isoform, non-syndromic, exome sequencing, early-onset retinal disease, consanguinity, autozygome

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01HTY9A9DB0ZCZ0YV7TQC8PPNKTest; http://hdl.handle.net/1854/LU-01HTY9A9DB0ZCZ0YV7TQC8PPNKTest; http://doi.org/10.1111/cge.14517Test; https://biblio.ugent.be/publication/01HTY9A9DB0ZCZ0YV7TQC8PPNK/file/01HTYA2FM8JM3PBRCH0SJHBC3QTest

الإتاحة: https://doi.org/10.1111/cge.14517Test
https://biblio.ugent.be/publication/01HTY9A9DB0ZCZ0YV7TQC8PPNKTest
http://hdl.handle.net/1854/LU-01HTY9A9DB0ZCZ0YV7TQC8PPNKTest
https://biblio.ugent.be/publication/01HTY9A9DB0ZCZ0YV7TQC8PPNK/file/01HTYA2FM8JM3PBRCH0SJHBC3QTest

المؤلفون: Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G.M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A.H.J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J.M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P.M., Roosing, Susanne

المصدر: Frontiers in Cell and Developmental Biology. 11

مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/1e2c7301-6eec-43e1-8240-1d6d7c81d55cTest
http://dx.doi.org/10.3389/fcell.2023.1112270Test

المؤلفون: Van Vooren, Eline, Kohl, Suzanne, Rivolta, Carlo, Leroy, Bart, Bauwens, Miriam, De Baere, Elfride

المصدر: Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences, RPE65, VUS, gene therapy

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HMRPD1BT0BEMMH56HQSY3PWPTest; http://hdl.handle.net/1854/LU-01HMRPD1BT0BEMMH56HQSY3PWPTest; https://biblio.ugent.be/publication/01HMRPD1BT0BEMMH56HQSY3PWP/file/01HMRQCV2K3443MRBCDQETTBJ2Test

الإتاحة: https://biblio.ugent.be/publication/01HMRPD1BT0BEMMH56HQSY3PWPTest
http://hdl.handle.net/1854/LU-01HMRPD1BT0BEMMH56HQSY3PWPTest
https://biblio.ugent.be/publication/01HMRPD1BT0BEMMH56HQSY3PWP/file/01HMRQCV2K3443MRBCDQETTBJ2Test

المؤلفون: Cornelis, Stephanie, Bauwens, Miriam, Haer-Wigman, Lonneke, De Bruyne, Marieke, Pantrangi, Madhulatha, De Baere, Elfride, Hufnagel, Robert B., Dhaenens, Claire-Marie, Cremers, Frans P. M.

المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01HQ8F8DG46B37RTPRM6SRF42DTest; http://hdl.handle.net/1854/LU-01HQ8F8DG46B37RTPRM6SRF42DTest; http://doi.org/10.1155/2023/6815504Test; https://biblio.ugent.be/publication/01HQ8F8DG46B37RTPRM6SRF42D/file/01HQ8F9KW24SC85YPV7WP8GJ1JTest

الإتاحة: https://doi.org/10.1155/2023/6815504Test
https://biblio.ugent.be/publication/01HQ8F8DG46B37RTPRM6SRF42DTest
http://hdl.handle.net/1854/LU-01HQ8F8DG46B37RTPRM6SRF42DTest
https://biblio.ugent.be/publication/01HQ8F8DG46B37RTPRM6SRF42D/file/01HQ8F9KW24SC85YPV7WP8GJ1JTest

المؤلفون: Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Dueñas Rey, Alfredo, Kaeseberg, Stephan, Jaeger, Melanie, Willer, Jason R., Winter, Jennifer, Truong, Hanh M., Roura Gruartmoner, Núria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stoehr, Heidi, Mansard, Luke, Roux, Anne-Francoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi, Haeuser, Friederike, Nuernberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N., De Baere, Elfride, Bolz, Hanno J.

المصدر: JOURNAL OF CLINICAL INVESTIGATION ; ISSN: 0021-9738 ; ISSN: 1558-8238

مصطلحات موضوعية: Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/759432; https://biblio.ugent.be/publication/01H9JT720QB2EXJCZVW1NJDDEPTest; http://hdl.handle.net/1854/LU-01H9JT720QB2EXJCZVW1NJDDEPTest; http://doi.org/10.1172/JCI161156Test; https://biblio.ugent.be/publication/01H9JT720QB2EXJCZVW1NJDDEP/file/01H9JT90G7J2GSCJ4FGS094ZNMTest

الإتاحة: https://doi.org/10.1172/JCI161156Test
https://biblio.ugent.be/publication/01H9JT720QB2EXJCZVW1NJDDEPTest
http://hdl.handle.net/1854/LU-01H9JT720QB2EXJCZVW1NJDDEPTest
https://biblio.ugent.be/publication/01H9JT720QB2EXJCZVW1NJDDEP/file/01H9JT90G7J2GSCJ4FGS094ZNMTest

المؤلفون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, McLaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.

المساهمون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, Altalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, Mclaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance

العلاقة: volume:14; issue:3; journal:BIOMOLECULES; https://hdl.handle.net/11591/522988Test

الإتاحة: https://doi.org/10.3390/biom14030367Test
https://hdl.handle.net/11591/522988Test