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1Academic Journal
المؤلفون: Park, H.S., Papanastasi, E., Blanchard, G., Chiticariu, E., Bachmann, D., Plomann, M., Morice-Picard, F., Vabres, P., Smahi, A., Huber, M., Pich, C., Hohl, D.
المصدر: Communications biology, vol. 4, no. 1, pp. 544
مصطلحات موضوعية: Carcinoma, Basal Cell/genetics, Basal Cell/metabolism, Basal Cell/pathology, Cilia/metabolism, Cilia/pathology, Ciliopathies/genetics, Ciliopathies/metabolism, Ciliopathies/pathology, Humans, Hypotrichosis/genetics, Hypotrichosis/metabolism, Hypotrichosis/pathology, Keratinocytes/metabolism, Keratinocytes/pathology, Microfilament Proteins/genetics, Microfilament Proteins/metabolism, Mutation, Neoplasms, Skin Neoplasms/genetics, Skin Neoplasms/metabolism, Skin Neoplasms/pathology
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33972689; info:eu-repo/semantics/altIdentifier/eissn/2399-3642; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_02DCA28E3A707; https://serval.unil.ch/notice/serval:BIB_02DCA28E3A70; https://serval.unil.ch/resource/serval:BIB_02DCA28E3A70.P001/REF.pdf
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2Academic Journal
المؤلفون: Moye, A.R., Bedoni, N., Cunningham, J.G., Sanzhaeva, U., Tucker, E.S., Mathers, P., Peter, V.G., Quinodoz, M., Paris, L.P., Coutinho-Santos, L., Camacho, P., Purcell, M.G., Winkelmann, A.C., Foster, J.A., Pugacheva, E.N., Ramamurthy, V.
المصدر: PLoS genetics, vol. 15, no. 8, pp. e1008315
مصطلحات موضوعية: Adult, Animals, Carrier Proteins/genetics, Cilia/pathology, Ciliopathies/genetics, Ciliopathies/pathology, Disease Models, Animal, Female, Humans, Infertility, Male/genetics, Male/pathology, Male, Membrane Transport Proteins/genetics, Mice, Knockout, Microtubules/metabolism, Middle Aged, Pedigree, Photophobia/genetics, Photophobia/pathology, Sperm Motility/genetics, Sperm Tail/pathology, Spermatogenesis/genetics, Syndrome
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/31425546; info:eu-repo/semantics/altIdentifier/eissn/1553-7404; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_18EB8A1020719; https://serval.unil.ch/notice/serval:BIB_18EB8A102071; https://serval.unil.ch/resource/serval:BIB_18EB8A102071.P001/REF.pdf
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3
المؤلفون: Christine Pich, Asma Smahi, Daniel Hohl, Elena Chiticariu, Hyun-Sook Park, Gabriela Blanchard, Marcel Huber, Markus Plomann, Fanny Morice-Picard, Eirini Papanastasi, Pierre Vabres, Daniel Bachmann
المصدر: Communications Biology
Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Communications biology, vol. 4, no. 1, pp. 544مصطلحات موضوعية: Keratinocytes, Skin Neoplasms, QH301-705.5, Medicine (miscellaneous), Biology, Hypotrichosis, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Ciliogenesis, medicine, Basal body, Humans, Cilia, Biology (General), 030304 developmental biology, Neoplasms, Basal Cell, 0303 health sciences, Cilium, Microfilament Proteins, medicine.disease, Cell biology, Ciliopathy, Septin ring, Midbody, Carcinoma, Basal Cell, Outcomes research, Carcinoma, Basal Cell/genetics, Carcinoma, Basal Cell/metabolism, Carcinoma, Basal Cell/pathology, Cilia/metabolism, Cilia/pathology, Ciliopathies/genetics, Ciliopathies/metabolism, Ciliopathies/pathology, Hypotrichosis/genetics, Hypotrichosis/metabolism, Hypotrichosis/pathology, Keratinocytes/metabolism, Keratinocytes/pathology, Microfilament Proteins/genetics, Microfilament Proteins/metabolism, Mutation, Neoplasms, Basal Cell/genetics, Neoplasms, Basal Cell/metabolism, Neoplasms, Basal Cell/pathology, Skin Neoplasms/genetics, Skin Neoplasms/metabolism, Skin Neoplasms/pathology, 030220 oncology & carcinogenesis, Basal cell carcinoma, Bazex–Dupré–Christol syndrome, General Agricultural and Biological Sciences
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Boldt, Karsten, van Reeuwijk, Jeroen, Dougherty, Gerard, Lamers, Ideke J C, Coene, Karlien L M, Arts, Heleen H, Betts, Matthew J, Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Lu, Qianhao, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J F, Marcelis, Carlo L, Mitic, Dragana, Morleo, Manuela, Oud, Machteld M, Koutroumpas, Konstantinos, Riemersma, Moniek, Rix, Susan, Terhal, Paulien A, Toedt, Grischa, van Dam, Teunis J P, de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L, Nguyen, Thanh-Minh T, Blacque, Oliver E, Gibson, Toby J, Huynen, Martijn A, Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E, Texier, Yves, Franco, Brunella, Giles, Rachel H, Ueffing, Marius, Russell, Robert B, Roepman, Ronald, Group, UK10K Rare Diseases, Al-Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inês, van Beersum, Sylvia E C, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Horn, Nicola, Reghan Foley, A., Franklin, Chris, Futema, Marta, Humphries, Steve E, Hurles, Matt, Joyce, Chris, McCarthy, Shane, Mitchison, Hannah M, Muddyman, Dawn, Muntoni, Francesco, Willer, Jason R, O'Rahilly, Stephen, Onoufriadis, Alexandros, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B, Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Mans, Dorus A, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ros, Williamson, Kathy
المصدر: Nature Communications 7(1), 11491 (2016). doi:10.1038/ncomms11491
مصطلحات موضوعية: info:eu-repo/classification/ddc/500, Biological Transport: physiology, Chromatography, Affinity: methods, Cilia: metabolism, Ciliopathies: genetics, Ciliopathies: pathology, Ciliopathies: therapy, DNA Mutational Analysis, Datasets as Topic, Dwarfism: genetics, Dwarfism: pathology, Dwarfism: therapy, Fibroblasts, HEK293 Cells, Humans, Mass Spectrometry, Molecular Targeted Therapy: methods, Muscle Hypotonia: genetics, Muscle Hypotonia: pathology, Muscle Hypotonia: therapy, Protein Interaction Mapping: methods, Protein Interaction Maps, Proteins: genetics, Proteins: isolation & purification, Proteins: metabolism, Proteomics: methods, Spine: abnormalities, Spine: pathology, Systems Analysis
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/2041-1723; info:eu-repo/semantics/altIdentifier/pmid/pmid:27173435; https://pub.dzne.de/record/138561; https://pub.dzne.de/search?p=id:%22DZNE-2020-04883%22