-
1مؤتمر
المؤلفون: Panneman, Daan, Roosing, Susanne, Boonen, Erica, Inglehearn, Chris, McKibbin, Martin, De Baere, Elfride, de Ravel, Thomy, Vermeer, Sascha, Vincent, Andrea, Koenekoop, Robert, Cremers, Frans
المصدر: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE ; ISSN: 0146-0404 ; ISSN: 1552-5783
مصطلحات موضوعية: Medicine and Health Sciences
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69Test; http://hdl.handle.net/1854/LU-01HTY9A9E91FFG43ENSPSJXT69Test; https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69/file/01HWA78NA0JBKDGNRE7717J0BBTest
-
2دورية أكاديمية
المؤلفون: Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E, Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A, Ten Brink, Jacoline B, Klaver, Caroline C W, Tranebjærg, Lisbeth, Rendtorff, Nanna D, Vermeer, Sascha, Smits, Jeroen J
المصدر: Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al (2023). Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. Human Genetics and Genomics Advances, 4(2):100181.
مصطلحات موضوعية: Institute of Medical Molecular Genetics, 610 Medicine & health, 570 Life sciences, biology
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/237185/1/Reurink_et_al_2023.pdfTest; info:pmid/36785559; urn:issn:2666-2477
الإتاحة: https://doi.org/10.5167/uzh-23718510.1016/j.xhgg.2023.100181Test
https://www.zora.uzh.ch/id/eprint/237185Test/
https://www.zora.uzh.ch/id/eprint/237185/1/Reurink_et_al_2023.pdfTest -
3دورية أكاديمية
المؤلفون: Goos, Tinne, Dubbeldam, Adriana, Vermant, Marie, Gogaert, Stefan, De Sadeleer, Laurens J., De Crem, Nico, De Langhe, Ellen, Yserbyt, Jonas, Weynand, Birgit, Carlon, Marianne S., Verschakelen, Johny, Vermeer, Sascha, Verleden, Stijn, Wuyts, Wim A.
المصدر: 0012-3692 ; Chest
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/001135708200001
-
4دورية أكاديمية
المصدر: Movement Disorders Clinical Practice; Jun2024, Vol. 11 Issue 6, p738-741, 4p
مصطلحات موضوعية: MOVEMENT disorders, CHOREA, MYOCLONUS, HUNTINGTON disease, GENETIC mutation, INFORMED consent (Medical law), SYNCOPE
-
5دورية أكاديمية
المؤلفون: Goos, Tinne, Verleden, Stijn, De Sadeleer, Laurens, Van Herck, Anke, Sacreas, Annelore, Vanstapel, Arno, KAES, Janne, Geudens, Vincent, Aelbrecht, Celine, RUTTENS, David, Lambrechts, Diether, Vermeer, Sascha, Ceulemans, Laurens, Raemdonck, Dirk, Godinas, Laurent, Yserbyt, Jonas, Vanaudenaerde, Bart, Verleden, Geert, Vos, Robin, Wuyts, Wim
المساهمون: De Sadeleer, Laurens, Sacreas, Annelore, Lambrechts, Diether, Vos, Robin, RUTTENS, David, Vanstapel, Arno, Aelbrecht, Celine, Geudens, Vincent, Van Herck, Anke, KAES, Janne, Yserbyt, Jonas, Goos, Tinne, Vanaudenaerde, Bart, Wuyts, Wim, Raemdonck, Dirk, Verleden, Stijn, Ceulemans, Laurens, Vermeer, Sascha, Godinas, Laurent, Verleden, Geert
مصطلحات موضوعية: Abbreviations: AR, acute rejection, AZA, azathioprine, BRECT, bronchiectasis, CF, cystic fibrosis, cHP, chronic hypersen- sitivity pneumonitis, CI, confidence interval, CLAD, chronic lung allograft dysfunction, CMV, cytomegalovirus, COPD
وصف الملف: application/pdf
العلاقة: Transplant international, 35 (Art N° 10159); http://hdl.handle.net/1942/37746Test; 35; 000822657800001
-
6دورية أكاديمية
المؤلفون: Bos, Saskia, Daniëls, Liesbeth, Michaux, Lucienne, Vanden Bempt, Isabelle, Vermeer, Sascha, Woei-A-Jin, FJ Sherida H, Schöffski, Patrick, Weynand, Birgit, Sciot, Raf, Declercq, Sabine, Ceulemans, Laurens J., Godinas, Laurent, Verleden, Geert M., Van Raemdonck, Dirk E., Dupont, Lieven J., Vos, Robin
المصدر: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224
مصطلحات موضوعية: Immunology, Immunology and Allergy
-
7دورية أكاديمية
المؤلفون: Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, Kleefstra, Tjitske
المصدر: American Journal of Human Genetics. 97(2)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Substitution, Animals, Base Sequence, DEAD-box RNA Helicases, Embryo, Nonmammalian, Exome, Female, Gene Dosage, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Analysis, DNA, Sex Characteristics, Wnt Signaling Pathway, Zebrafish, DDD Study, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7z24v4hnTest
-
8دورية أكاديمية
المؤلفون: Van Daele, Sien H., Moisse, Matthieu, Race, Valérie, Van Eesbeeck, Amélie, Keldermans, Liesbeth, Vermeer, Sascha, Van Esch, Hilde, Claeys, Kristl G., Van Damme, Philip
المساهمون: Fonds Wetenschappelijk Onderzoek
المصدر: European Journal of Neurology ; volume 29, issue 1, page 345-349 ; ISSN 1351-5101 1468-1331
-
9مؤتمر
المؤلفون: Bauwens, Miriam, del Pozo Valero, Marta, De Bruyne, Marieke, Van Den Broeck, Filip, Mahieu, Quinten, Van Heetvelde, Mattias, Balikova, Irina, Vermeer, Sascha, De Zaeytijd, Julie, Leroy, Bart, De Baere, Elfride
العلاقة: https://biblio.ugent.be/publication/01HTF1PFF0C5K2F46ST2XP4B9RTest; http://hdl.handle.net/1854/LU-01HTF1PFF0C5K2F46ST2XP4B9RTest
-
10دورية أكاديمية
المؤلفون: Van Daele, Sien Hilde, Vermeer, Sascha, Van Eesbeeck, Amélie, Lannoo, Laura, Race, Valérie, van Damme, Philip, Claeys, Kristl, Vandenberghe, Wim
مصطلحات موضوعية: PostScript
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/91/11/1233Test; http://dx.doi.org/10.1136/jnnp-2020-323998Test
الإتاحة: https://doi.org/10.1136/jnnp-2020-323998Test
http://jnnp.bmj.com/cgi/content/short/91/11/1233Test
النص الكامل