المؤلفون: Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson

المصدر: PLoS Genetics, Vol 20, Iss 5, p e1011230 (2024)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1011230&type=printableTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/2483dcb3baf447028431d996808cd5cdTest

المؤلفون: Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova, Petra Liskova

المصدر: Genes, Vol 15, Iss 6, p 799 (2024)

مصطلحات موضوعية: Blau syndrome, early onset sarcoidosis, uveitis, NOD2, autoinflammation, neurosarcoidosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/6/799Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/c98878a6b1f7490aa0f850fb73890ce5Test

المؤلفون: Andrea Vergaro, Monika Pankievic, Jana Jedlickova, Lubica Dudakova, Marie Vajter, Michel Michaelides, Martin Meliska, Pavel Nemec, Daniela Babincova, Bohdan Kousal, Petra Liskova

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 7, p 3744 (2024)

مصطلحات موضوعية: Sorsby fundus dystrophy, choroidal neovascular membrane, TIMP3, pathogenic variants, optical coherence tomography angiography, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/25/7/3744Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/b2520c6b1e1842d890582bce5d1ea665Test

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

المصدر: Biomolecules, Vol 14, Iss 3, p 367 (2024)

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2218-273X/14/3/367Test; https://doaj.org/toc/2218-273XTest

الوصول الحر: https://doaj.org/article/a59ac914048b4e7daf70faf03534c762Test

المؤلفون: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

مصطلحات موضوعية: USH2A, Usher syndrome, retinitis pigmentosa, usherin, whole genome sequencing, minigene splice assay, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000131Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ceTest

المؤلفون: Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2399-3642Test

الوصول الحر: https://doaj.org/article/6eed77457b784436985e138a87c60544Test

المؤلفون: Pavlina Skalicka, Louise F. Porter, Kristyna Brejchova, Frantisek Malinka, Lubica Dudakova, Petra Liskova

المصدر: Biomedical Papers, Vol 164, Iss 2, Pp 183-188 (2020)

مصطلحات موضوعية: znf469, deafness, brittle cornea syndrome, blindness, corneal rupture, penetrating keratoplasty, Medicine

وصف الملف: electronic resource

العلاقة: https://biomed.papers.upol.cz/artkey/bio-202002-0010_brittle-cornea-syndrome-disease-causing-mutations-in-znf469-and-two-novel-variants-identified-in-a-patient-fol.phpTest; https://doaj.org/toc/1213-8118Test; https://doaj.org/toc/1804-7521Test

الوصول الحر: https://doaj.org/article/d12d7d02686142b480a384861c827a64Test

المؤلفون: Pavlina Skalicka, Jana Jedlickova, Ales Horinek, Marie Trkova, Alice E. Davidson, Stephen J. Tuft, Lubica Dudakova, Petra Liskova

المصدر: Journal of Clinical Medicine, Vol 11, Iss 17, p 5166 (2022)

مصطلحات موضوعية: FOXC1, corneal dystrophy, anterior segment dysgenesis, keratometry, corneal endothelium, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/17/5166Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/dfde5b713f0f458682ca3969dbf0f348Test

المؤلفون: Cerys J. Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova

المصدر: BMC Ophthalmology, Vol 18, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Schnyder corneal dystrophy, UBIAD1, Novel mutation, De novo, Crystalline deposits, Confocal microscopy, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12886-018-0918-8Test; https://doaj.org/toc/1471-2415Test

الوصول الحر: https://doaj.org/article/5dffa357c27e46e881091d2efe2a00aaTest

المؤلفون: Bohdan Kousal, Lucia Hlavata, Hana Vlaskova, Lenka Dvorakova, Michaela Brichova, Zora Dubska, Hana Langrova, Andrea L. Vincent, Lubica Dudakova, Petra Liskova

المصدر: Genes, Vol 12, Iss 11, p 1816 (2021)

مصطلحات موضوعية: RS1, X-linked retinoschisis, novel variant, uveitis, steroid treatment, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/11/1816Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/e7eab7217f274eb8b2e3a557131c7e99Test