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1دورية أكاديمية
المؤلفون: Levitin, Maria O, Rawlins, Lettie E, Sanchez-Andrade, Gabriela, Arshad, Osama A, Collins, Stephan C, Sawiak, Stephen J, Iffland, Phillip H, Andersson, Malin H L, Bupp, Caleb, Cambridge, Emma L, Coomber, Eve L, Ellis, Ian, Herkert, Johanna C, Ironfield, Holly, Jory, Logan, Kretz, Perrine F, Kant, Sarina G, Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M, Stewart, Helen, Shuen, Andrew Y, Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J, Crino, Peter B, Yalcin, Binnaz, Crosby, Andrew, Baple, Emma L, Logan, Darren W, Hurles, Matthew E, Gerety, Sebastian S
المصدر: Levitin , M O , Rawlins , L E , Sanchez-Andrade , G , Arshad , O A , Collins , S C , Sawiak , S J , Iffland , P H , Andersson , M H L , Bupp , C , Cambridge , E L , Coomber , E L , Ellis , I , Herkert , J C , Ironfield , H , Jory , L , Kretz , P F , Kant , S G , Neaverson , A , Nibbeling , E , Rowley , C , Relton , E , Sanderson , ....
مصطلحات موضوعية: animal model, iPSC, mTOR, macrocephaly, neurodevelopmental disorders, recessive, Humans, Signal Transduction/genetics, Mechanistic Target of Rapamycin Complex 1/metabolism, Cognition, Animals, Mice, TOR Serine-Threonine Kinases/metabolism, Brain/metabolism, Microfilament Proteins/genetics
الإتاحة: https://doi.org/10.1093/brain/awad231Test
https://pure.au.dk/portal/en/publications/b1b4e32d-066a-41f0-9436-c69a0922b12aTest
http://www.scopus.com/inward/record.url?scp=85176495009&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Hjorth, Cathrine F., Damkier, Per, Stage, Tore B., Feddersen, Søren, Hamilton-Dutoit, Stephen, Ejlertsen, Bent, Lash, Timothy L., Bøggild, Henrik, Sørensen, Henrik T., Cronin-Fenton, Deirdre
المصدر: Hjorth , C F , Damkier , P , Stage , T B , Feddersen , S , Hamilton-Dutoit , S , Ejlertsen , B , Lash , T L , Bøggild , H , Sørensen , H T & Cronin-Fenton , D 2023 , ' The impact of single nucleotide polymorphisms on return-to-work after taxane-based chemotherapy in breast cancer ' , Cancer Chemotherapy and Pharmacology , vol. 91 , no. 2 , pp. 157-165 . https://doi.org/10.1007/s00280-022-04499-zTest
مصطلحات موضوعية: Breast neoplasms, Cohort study, Docetaxel, Return-to-work, Single nucleotide polymorphisms, Taxane, Humans, Genotype, Xeroderma Pigmentosum Group D Protein/genetics, Return to Work, Cytochrome P-450 CYP3A/genetics, Taxoids/therapeutic use, Female, Polymorphism, Single Nucleotide, Liver-Specific Organic Anion Transporter 1/genetics, Breast Neoplasms/drug therapy, Microfilament Proteins/genetics
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/7989f5fe-e9b8-4450-a49a-c95faa8db71cTest
الإتاحة: https://doi.org/10.1007/s00280-022-04499-zTest
https://portal.findresearcher.sdu.dk/da/publications/7989f5fe-e9b8-4450-a49a-c95faa8db71cTest
https://findresearcher.sdu.dk/ws/files/219027345/s00280_022_04499_z.pdfTest -
3دورية أكاديمية
المؤلفون: Ruijmbeek, Claudine Wb, Housley, Filomena, Idrees, Hafiza, Housley, Michael P, Pestel, Jenny, Keller, Leonie, Lai, Jason Kh, der Linde, Herma C van, Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N, Almesned, Abdulrahman, Dalinghaus, Michiel, den Bersselaar, Lisa M van, van Slegtenhorst, Marjon A, Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J, Stainier, Didier Yr, Verhagen, Judith Ma, Reischauer, Sven
المصدر: Ruijmbeek , C W , Housley , F , Idrees , H , Housley , M P , Pestel , J , Keller , L , Lai , J K , der Linde , H C V , Willemsen , R , Piesker , J , Al-Hassnan , Z N , Almesned , A , Dalinghaus , M , den Bersselaar , L M V , van Slegtenhorst , M A , Tessadori , F , Bakkers , J , van Ham , T J , Stainier , D Y , Verhagen , J M & Reischauer , S ....
مصطلحات موضوعية: Animals, Cell Adhesion/genetics, Microfilament Proteins/genetics, Myocytes, Cardiac/metabolism, Myofibrils/metabolism, Zebrafish/genetics, Trans-Activators, Cardiomyopathies/genetics
الإتاحة: https://doi.org/10.1172/jci.insight.168247Test
https://doi.org/20.500.11755/78cdfffa-0575-4270-867d-e9f09db4c9c3Test
https://pure.knaw.nl/portal/en/publications/78cdfffa-0575-4270-867d-e9f09db4c9c3Test
https://hdl.handle.net/20.500.11755/78cdfffa-0575-4270-867d-e9f09db4c9c3Test -
4دورية أكاديمية
المؤلفون: Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., 2nd, Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E., Rowley, C., Relton, E., Sanderson, M., Scott, E. M., Stewart, H., Shuen, A. Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., van Ravenswaaij-Arts, C., Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C. J., Crino, P. B., Yalcin, B., Crosby, A. H., Baple, E. L., Logan, D. W., Hurles, M. E., Gerety, S. S.
مصطلحات موضوعية: Humans, Animals, Mice, Signal Transduction/genetics, TOR Serine-Threonine Kinases/metabolism, Brain/metabolism, Mechanistic Target of Rapamycin Complex 1/metabolism, Cognition, Microfilament Proteins/genetics, animal model, iPSC, mTOR, macrocephaly, neurodevelopmental disorders, recessive, advisor to Astra-Zeneca
العلاقة: Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, et al. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain : a journal of neurology. 2023;146(11):4766-83.; Brain : a journal of neurology; PMC10629792; https://hdl.handle.net/11287/623085Test
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5دورية أكاديمية
المؤلفون: Garrido, Débora, Beretta, Stefania, Castanese, Alberto, Böckers, Tobias, Grabrucker, Stefanie, Bauer, Helen Friedericke, Bayer, David, Sala, Carlo, Verpelli, Chiara, Roselli, Francesco, Bockmann, Juergen, Proepper, Christian
المصدر: Molecular psychiatry 27(12), 4994-5006 (2022). doi:10.1038/s41380-022-01756-8
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Mice, Autism Spectrum Disorder: genetics, Microfilament Proteins: genetics, Mutation, Nerve Tissue Proteins: genetics, Neurons: physiology, Social Interaction, Gyrus Cinguli: metabolism, Gyrus Cinguli: pathology, Microfilament Proteins, Nerve Tissue Proteins, Shank2 protein, mouse, Shank3 protein
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:36100669; info:eu-repo/semantics/altIdentifier/issn/1359-4184; info:eu-repo/semantics/altIdentifier/issn/1476-5578; https://pub.dzne.de/record/165245Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01538%22Test
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6دورية أكاديمية
المؤلفون: Malara, Mariagiovanna, Lutz, Anne-Kathrin, Arévalo, Andrea Pérez, von Bernhardi, Jaime Eugenin, Schön, Michael, Bockmann, Jürgen, Dimou, Leda, Böckers, Tobias, Incearap, Berra, Bauer, Helen Friedericke, Cursano, Silvia, Volbracht, Katrin, Lerner, Joanna Janina, Pandey, Rakshita, Delling, Jan Philipp, Ioannidis, Valentin
المصدر: Cellular and molecular life sciences 79(7), 371 (2022). doi:10.1007/s00018-022-04400-4
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Autism Spectrum Disorder: genetics, Chromosome Deletion, Chromosome Disorders: genetics, Chromosome Disorders: metabolism, Chromosomes, Human, Pair 22, Humans, Mice, Knockout, Microfilament Proteins: genetics, Myelin Sheath: pathology, Nerve Tissue Proteins: genetics, Peripheral Nervous System: metabolism, ASD, Myelin, SHANK3, hiPSCs, Microfilament Proteins, Nerve Tissue Proteins, SHANK3 protein, mouse
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35726031; info:eu-repo/semantics/altIdentifier/issn/0014-4754; info:eu-repo/semantics/altIdentifier/issn/1420-682X; info:eu-repo/semantics/altIdentifier/issn/1420-9071; https://pub.dzne.de/record/164867Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01311%22Test
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7دورية أكاديمية
المؤلفون: Urrutia-Ruiz, Carolina, Rombach, Daniel, Cursano, Silvia, Gerlach-Arbeiter, Susanne, Schoen, Michael, Bockmann, Juergen, Demestre, Maria, Böckers, Tobias
المصدر: International journal of molecular sciences 23(11), 6081 (2022). doi:10.3390/ijms23116081 special issue: "Non-genetic Modifiers of Synaptic Plasticity and Neurotransmission in the Central Nervous System (CNS) in Health and Disease"
مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Animals, Autistic Disorder: genetics, Autistic Disorder: metabolism, Brain Injuries, Traumatic: metabolism, Mice, Knockout, Microfilament Proteins: genetics, Microfilament Proteins: metabolism, Nerve Tissue Proteins: genetics, Nerve Tissue Proteins: metabolism, Neuronal Plasticity: genetics, Synapses: metabolism
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35682760; info:eu-repo/semantics/altIdentifier/issn/1422-0067; info:eu-repo/semantics/altIdentifier/issn/1661-6596; https://pub.dzne.de/record/164671Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01201%22Test
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8دورية أكاديمية
المؤلفون: Messerschmidt, C, Foddis, M, Blumenau, S, Müller, S, Bentele, K, Holtgrewe, M, Kun-Rodrigues, C, Alonso, I, Carmo Macario, M, Morgadinho, AS, Velon, AG, Santo, G, Santana, I, Mönkäre, S, Kuuluvainen, L, Schleutker, J, Pöyhönen, M, Myllykangas, L, Senatore, A, Berchtold, D, Winek, K, Meisel, A, Pavlovic, A, Kostic, V, Dobricic, V, Lohmann, E, Hanagasi, H, Guven, G, Bilgic, B, Bras, J, Guerreiro, R, Beule, D, Dirnagl, U, Sassi, C
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: Aged, Amino Acid Substitution, Animals, Brain Ischemia / genetics, Brain Ischemia / metabolism, Brain Ischemia / pathology, Disease Models, Animal, Female, Humans, Male, Mice, Microfilament Proteins / genetics, Microfilament Proteins / metabolism, Middle Aged, Mutation, Missense, Stroke / genetics, Stroke/ metabolism, Stroke / pathology
وصف الملف: application/pdf
العلاقة: Scientific Reports, vol.11(1):6072; https://www.nature.com/articles/s41598-021-84919-xTest; https://hdl.handle.net/10216/152462Test
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9دورية أكاديمية
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
العلاقة: 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_02DCA28E3A70Test; urn:issn:2399-3642; https://serval.unil.ch/resource/serval:BIB_02DCA28E3A70.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_02DCA28E3A707Test
الإتاحة: https://doi.org/10.1038/s42003-021-02054-9Test
https://serval.unil.ch/notice/serval:BIB_02DCA28E3A70Test
https://serval.unil.ch/resource/serval:BIB_02DCA28E3A70.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_02DCA28E3A707Test -
10دورية أكاديمية
المؤلفون: Delling, Jan Philipp, Böckers, Tobias
المصدر: Journal of neurodevelopmental disorders 13(1), 55 (2021). doi:10.1186/s11689-021-09397-8
مصطلحات موضوعية: info:eu-repo/classification/ddc/050, Animals, Autism Spectrum Disorder: genetics, Autism Spectrum Disorder: therapy, Chromosome Deletion, Chromosome Disorders, Humans, Mice, Microfilament Proteins: genetics, Nerve Tissue Proteins: genetics, Nerve Tissue Proteins: metabolism, Phenotype, Rats, ASD, Autism spectrum disorder, PMDS, Phelan-McDermid syndrome, SHANK3, Therapy, Microfilament Proteins, Nerve Tissue Proteins, SHANK1 protein, mouse, SHANK3 protein, human, rat
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1866-1947; info:eu-repo/semantics/altIdentifier/issn/1866-1955; info:eu-repo/semantics/altIdentifier/pmid/pmid:34784886; https://pub.dzne.de/record/164185Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00841%22Test
النص الكامل