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1دورية أكاديمية
المؤلفون: Woerz, Franziska, Hoffmann, Felix, Antony, Shibu, Bolz, Sylvia, Jarboui, Mohamed Ali, Junger, Katrin, Klose, Franziska, Stehle, Isabel F., Boldt, Karsten, Ueffing, Marius, Beyer, Tina
المصدر: Molecular & Cellular Proteomics ; volume 23, issue 1, page 100701 ; ISSN 1535-9476
مصطلحات موضوعية: Molecular Biology, Biochemistry, Analytical Chemistry
الإتاحة: https://doi.org/10.1016/j.mcpro.2023.100701Test
https://api.elsevier.com/content/article/PII:S1535947623002128?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1535947623002128?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Burkard, Markus, Kohl, Susanne, Krätzig, Timm, Tanimoto, Naoyuki, Brennenstuhl, Christina, Bausch, Anne E, Junger, Katrin, Reuter, Peggy, Sothilingam, Vithiyanjali, Beck, Susanne C, Huber, Gesine, Ding, Xi-Qin, Mayer, Anja K, Baumann, Britta, Weisschuh, Nicole, Zobor, Ditta, Hahn, Gesa-Astrid, Kellner, Ulrich, Venturelli, Sascha, Becirovic, Elvir, Issa, Peter Charbel, Koenekoop, Robert K, Rudolph, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G, Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W, Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter
المصدر: Journal of Clinical Investigation. 128(12)
مصطلحات موضوعية: Genetics, Neurosciences, Brain Disorders, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, Amino Acid Substitution, Animals, Color Vision Defects, Cyclic Nucleotide-Gated Cation Channels, Disease Models, Animal, HEK293 Cells, Heterozygote, Humans, Ion Channel Gating, Mice, Mice, Transgenic, Mutation, Mutation, Missense, Retinal Cone Photoreceptor Cells, Retinal Diseases, Molecular genetics, Ophthalmology, Retinopathy, Medical and Health Sciences, Immunology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3tx4n83zTest
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3دورية أكاديمية
المؤلفون: Fassad, Mahmoud R., Rumman, Nisreen, Junger, Katrin, Patel, Mitali.P, Thompson, James, Goggin, Patricia, Ueffing, Marius, Beyer, Tina, Boldt, Karsten, Lucas, Jane, Mitchison, Hannah
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/481158/1/IFT74_accepted_1_.docxTest; https://eprints.soton.ac.uk/481158/2/ddad132.pdfTest; Fassad, Mahmoud R., Rumman, Nisreen, Junger, Katrin, Patel, Mitali.P, Thompson, James, Goggin, Patricia, Ueffing, Marius, Beyer, Tina, Boldt, Karsten, Lucas, Jane and Mitchison, Hannah (2023) Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. Human Molecular Genetics, 32 (21), 3090-3104. (doi:10.1093/hmg/ddad132 ).
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4دورية أكاديمية
المؤلفون: Faber, Siebren, Mercey, Olivier, Junger, Katrin, Garanto, Alejandro, May-Simera, Helen, Ueffing, Marius, Collin, Rob W. J., Boldt, Karsten, Guichard, Paul, Hamel, Virginie, Roepman, Ronald
المصدر: ISSN: 2379-3708 ; JCI insight, vol. 8, no. 10 (2023) e169162.
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Cell Biology, Gene therapy, Genetics, Molecular genetics, Retinopathy
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37071472; https://archive-ouverte.unige.ch/unige:175699Test; unige:175699
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5دورية أكاديمية
المؤلفون: Fassad, Mahmoud R, Rumman, Nisreen, Junger, Katrin, Patel, Mitali P, Thompson, James, Goggin, Patricia, Ueffing, Marius, Beyer, Tina, Boldt, Karsten, Lucas, Jane S, Mitchison, Hannah M
المصدر: Human Molecular Genetics , Article ddad132. (2023) (In press).
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, IFT74, ciliopathies, primary ciliary dyskinesia, intraflagellar transport, IFT-B, MALE-FERTILITY, B CORE, COMPLEX, SPERMIOGENESIS, GENE, ARCHITECTURE, ORIENTATION, DYSFUNCTION, MACHINERY
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10178817/1/ddad132.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10178817Test/
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6دورية أكاديمية
المؤلفون: Aslanyan, Mariam G., Doornbos, Cenna, Diwan, Gaurav D., Anvarian, Zeinab, Beyer, Tina, Junger, Katrin, van Beersum, Sylvia E. C., Russell, Robert B., Ueffing, Marius, Ludwig, Alexander, Boldt, Karsten, Pedersen, Lotte B., Roepman, Ronald
المساهمون: School of Biological Sciences
مصطلحات موضوعية: Science::Biological sciences, Cilia, Clathrin-Mediated Endocytosis
وصف الملف: application/pdf
العلاقة: RG124/19(S); Frontiers in Cell and Developmental Biology; Aslanyan, M. G., Doornbos, C., Diwan, G. D., Anvarian, Z., Beyer, T., Junger, K., van Beersum, S. E. C., Russell, R. B., Ueffing, M., Ludwig, A., Boldt, K., Pedersen, L. B. & Roepman, R. (2023). A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome. Frontiers in Cell and Developmental Biology, 11, 1113656-. https://dx.doi.org/10.3389/fcell.2023.1113656Test; https://hdl.handle.net/10356/169371Test; 2-s2.0-85147745208; 11; 1113656
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7دورية أكاديمية
المؤلفون: G. Aslanyan, Mariam, Doornbos, Cenna, D. Diwan, Gaurav, Anvarian, Zeinab, Beyer, Tina, Junger, Katrin, E. C. van Beersum, Sylvia, Russell, Robert, Ueffing, Marius, Ludwig, Alexander, Boldt, Karsten, Pedersen, Lotte Bang, Roepman, Ronald
المصدر: G. Aslanyan , M , Doornbos , C , D. Diwan , G , Anvarian , Z , Beyer , T , Junger , K , E. C. van Beersum , S , Russell , R , Ueffing , M , Ludwig , A , Boldt , K , Pedersen , L B & Roepman , R 2023 , ' A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome ' , Frontiers in Cell and Developmental Biology , vol. 11 . https://doi.org/10.3389/fcell.2023.1113656Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3389/fcell.2023.1113656Test
https://curis.ku.dk/portal/da/publications/a-targeted-multiproteomics-approach-generates-a-blueprint-of-the-ciliary-ubiquitinomeTest(5cc08294-1a54-4408-a536-2a00f0a84dec).html
https://curis.ku.dk/ws/files/336135007/fcell_11_1113656.pdfTest -
8دورية أكاديمية
المؤلفون: Hoffmann, Felix, Bolz, Sylvia, Junger, Katrin, Klose, Franziska, Stehle, Isabel F., Ueffing, Marius, Boldt, Karsten, Beyer, Tina
المساهمون: Pro Retina-Stiftung, Tistou and Charlotte Kerstan Stiftung, Wellcome Trust, Bundesministerium für Bildung und Forschung
المصدر: Frontiers in Molecular Biosciences ; volume 10 ; ISSN 2296-889X
مصطلحات موضوعية: Biochemistry, Genetics and Molecular Biology (miscellaneous), Molecular Biology, Biochemistry
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9دورية أكاديمية
المؤلفون: Rezi, Csenge K, Aslanyan, Mariam G, Diwan, Gaurav D, Cheng, Tao, Chamlali, Mohamed, Junger, Katrin, Anvarian, Zeinab, Lorentzen, Esben, Pauly, Kleo B, Afshar-Bahadori, Yasmin, Fernandes, Eduardo Fa, Qian, Feng, Tosi, Sébastien, Christensen, Søren T, Pedersen, Stine F, Strømgaard, Kristian, Russell, Robert B, Miner, Jeffrey H, Mahjoub, Moe R, Boldt, Karsten, Roepman, Ronald, Pedersen, Lotte B
المصدر: EMBO Rep ; ISSN:1469-3178
مصطلحات موضوعية: DLG1, IFT20, Polycystin-2, Primary Cilia, SDCCAG3
العلاقة: https://doi.org/10.1038/s44319-024-00170-1Test; https://pubmed.ncbi.nlm.nih.gov/38849673Test
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10دورية أكاديمية
المؤلفون: Cheng, Fubo, Zheng, Wenxu, Liu, Chang, Barbuti, Peter Antony, Yu-Taeger, Libo, Casadei, Nicolas, Huebener-Schmid, Jeannette, Admard, Jakob, Boldt, Karsten, Junger, Katrin, Ueffing, Marius, Houlden, Henry, Sharma, Manu, Krüger, Rejko, Grundmann-Hauser, Kathrin, Ott, Thomas, Riess, Olaf
المصدر: Science Advances, 8 (47), eabq6324 (2022-11-23)
مصطلحات موضوعية: Humans, alpha-Synuclein/genetics, Apoptosis Regulatory Proteins/metabolism, Brain/metabolism, DNA-Binding Proteins/metabolism, Introns/genetics, Parkinson Disease/metabolism, Polymorphism, Single Nucleotide, Regulatory Sequences, Nucleic Acid, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie
العلاقة: urn:issn:2375-2548; https://orbilu.uni.lu/handle/10993/53880Test; info:hdl:10993/53880; https://orbilu.uni.lu/bitstream/10993/53880/1/sciadv.abq6324%20%281%29.pdfTest; scopus-id:2-s2.0-85142940102; info:pmid:36417521; wos:000906647400005
الإتاحة: https://doi.org/10.1126/sciadv.abq6324Test
https://orbilu.uni.lu/handle/10993/53880Test
https://orbilu.uni.lu/bitstream/10993/53880/1/sciadv.abq6324%20%281%29.pdfTest
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