-
1دورية أكاديمية
المؤلفون: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
2دورية أكاديمية
المؤلفون: Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk
المصدر: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
مصطلحات موضوعية: antisense oligonucleotides, genetic therapy, splice redirection, USH2A, Usher syndrome, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk
المصدر: PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, Grischa Toedt, Lisette Hetterschijt, Edith L Tonnaer, Theo A Peters, Sylvia E C van Beersum, Judith G M Bergboer, Nicola Horn, Erik de Vrieze, Ralph W N Slijkerman, Jeroen van Reeuwijk, Gert Flik, Jan E Keunen, Marius Ueffing, Toby J Gibson, Ronald Roepman, Karsten Boldt, Hannie Kremer, Erwin van Wijk
المصدر: PLoS Genetics, Vol 11, Iss 10, p e1005574 (2015)
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1003977 (2013)
وصف الملف: electronic resource
-
6دورية أكاديميةThe mitotic arrest deficient protein MAD2B interacts with the clathrin light chain A during mitosis.
المؤلفون: Klaas Medendorp, Lilian Vreede, Jan J M van Groningen, Lisette Hetterschijt, Linda Brugmans, Patrick A M Jansen, Wilhelmina H van den Hurk, Diederik R H de Bruijn, Ad Geurts van Kessel
المصدر: PLoS ONE, Vol 5, Iss 11, p e15128 (2010)
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Klaas Medendorp, Jan J M van Groningen, Lilian Vreede, Lisette Hetterschijt, Wilhelmina H van den Hurk, Diederik R H de Bruijn, Linda Brugmans, Ad Geurts van Kessel
المصدر: PLoS ONE, Vol 4, Iss 9, p e7020 (2009)
وصف الملف: electronic resource
-
8
المؤلفون: Ralph Slijkerman, Theo A. Peters, Milou Gerits, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Hannie Kremer, Lisette Hetterschijt, Alexander Goloborodko
المصدر: Zebrafish, 15, 6, pp. 597-609
Zebrafish, 15, 597-609مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, RNA Splicing, Usher syndrome, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Splice Donor Site, All institutes and research themes of the Radboud University Medical Center, otorhinolaryngologic diseases, medicine, Animals, Humans, CRISPR, Zebrafish, Genetics, Extracellular Matrix Proteins, Intron, medicine.disease, biology.organism_classification, Introns, 030104 developmental biology, Gene Expression Regulation, Larva, Mutation, RNA splicing, Mutation (genetic algorithm), Animal Science and Zoology, RNA Splice Sites, 030217 neurology & neurosurgery, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee16f2116e53d49a1935a1955965ccbb
https://hdl.handle.net/2066/196655 -
9
المؤلفون: Helger G. Yntema, Erwin van Wijk, Ellen A.W. Blokland, Frans P.M. Cremers, Lisette Hetterschijt, Erik de Vrieze, Sarah Hull, Ronald Roepman, Gavin Arno, Thanh-Minh T. Nguyen, Lonneke Haer-Wigman, Paul A. van der Zwaag, Andrew R. Webster, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, L. Ingeborgh van den Born
المصدر: Journal of Medical Genetics, 54, 624-632
Journal of Medical Genetics, 54, 9, pp. 624-632
JOURNAL OF MEDICAL GENETICS, 54(9), 624-632. BMJ PUBLISHING GROUPمصطلحات موضوعية: 0301 basic medicine, CAUSE JOUBERT-SYNDROME, GENOTYPE-PHENOTYPE CORRELATION, LEBER CONGENITAL AMAUROSIS, PROTEIN, 030105 genetics & heredity, Biology, Compound heterozygosity, DIAGNOSIS, Ciliopathies, RETINAL DYSTROPHY, DISEASE, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Intraflagellar transport, Retinitis pigmentosa, NEPHROCYSTIN-4, Genetics, medicine, Missense mutation, Genetics (clinical), Exome sequencing, Cilium, LOCALIZATION, medicine.disease, GENE, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Ciliary base
وصف الملف: application/pdf
-
10
المؤلفون: Johanne M. Groothuismink, Erwin van Wijk, Lisette Hetterschijt, Hiroyuki Kondo, Joris A. Veltman, Hannie Kremer, Manir Ali, Ellen A.W. Blokland, Christian Gilissen, Lea Sollfrank, Konstantinos Nikopoulos, Frans P.M. Cremers, Lucas Mohn, James A. Poulter, Alexander Hoischen, F. Nienke Boonstra, Wolfgang Berger, Tomoko Tahira, C. Erik van Nouhuys, Carmel Toomes, Tim M. Strom, Chris F. Inglehearn, Margo Dona, Eiichi Uchio, Rob W.J. Collin, Lonneke Duijkers
المساهمون: University of Zurich, Cremers, Frans P M
المصدر: Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences USA, 110, 9856-9861
Proc. Natl. Acad. Sci. U.S.A. 110, 9856-9861 (2013)
Proceedings of the National Academy of Sciences USA, 110, 24, pp. 9856-9861مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Mutant, medicine.disease_cause, Animals, Genetically Modified, 11124 Institute of Medical Molecular Genetics, 0302 clinical medicine, Mutant protein, Chlorocebus aethiops, Missense mutation, Zebrafish, Zinc finger, 0303 health sciences, Mutation, Multidisciplinary, Reverse Transcriptase Polymerase Chain Reaction, Biological Sciences, Pedigree, DNA-Binding Proteins, 10076 Center for Integrative Human Physiology, Gene Knockdown Techniques, COS Cells, Female, FZD4, DCN MP - Plasticity and memory, Molecular Sequence Data, 610 Medicine & health, Biology, Mental health [NCEBP 9], 03 medical and health sciences, medicine, Animals, Humans, Amino Acid Sequence, 030304 developmental biology, Cell Nucleus, Family Health, 1000 Multidisciplinary, Sequence Homology, Amino Acid, Gene Expression Profiling, Vitreoretinopathy, Proliferative, Retinal Vessels, Zebrafish Proteins, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], medicine.disease, biology.organism_classification, Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Luminescent Proteins, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Microscopy, Fluorescence, 030221 ophthalmology & optometry, Familial exudative vitreoretinopathy, 570 Life sciences, biology, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Transcription Factors
وصف الملف: Collin_et_al_PNAS.pdf - application/pdf; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337e63aa6068ed2511f7218c332d5551
Full Text Finder