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1دورية أكاديمية
المؤلفون: Gavin J. Sutton, Daniel Poppe, Rebecca K. Simmons, Kieran Walsh, Urwah Nawaz, Ryan Lister, Johann A. Gagnon-Bartsch, Irina Voineagu
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Kerith-Rae Dias, Colleen M. Carlston, Laura E.R. Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally Ann Lynch, Catherine Moorwood, Karen Stals, Sian Ellard, Matthew N. Bainbridge, Jennifer Friedman, John G. Pappas, Rachel Rabin, Catherine B. Nowak, Jessica Douglas, Theodore E. Wilson, Maria J. Guillen Sacoto, Sureni V. Mullegama, Timothy Blake Palculict, Edwin P. Kirk, Jason R. Pinner, Matthew Edwards, Francesca Montanari, Claudio Graziano, Tommaso Pippucci, Bri Dingmann, Ian Glass, Heather C. Mefford, Takeyoshi Shimoji, Toshimitsu Suzuki, Kazuhiro Yamakawa, Haley Streff, Christian P. Schaaf, Anne M. Slavotinek, Irina Voineagu, John C. Carey, Michael F. Buckley, Annette Schenck, Robert J. Harvey, Tony Roscioli
المصدر: Genetics in Medicine, 24, 9, pp. 1952-1966
Genetics in Medicine, 24, 1952-1966مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Gene Expression Regulation, Protein Domains, Neurodevelopmental Disorders, Intellectual Disability, Exome Sequencing, Brain, Humans, Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e563459923c72f6a18b3c67d0dbc388
https://pubmed.ncbi.nlm.nih.gov/35916866 -
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المؤلفون: Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, Gene Dosage, Mutation, Missense, Mothers, Nerve Tissue Proteins, Locus (genetics), Biology, Young Adult, X Chromosome Inactivation, Report, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Skewed X-inactivation, Genetics (clinical), X chromosome, Hemizygote, Symporters, Australia, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Face, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f32c7a2dbf50567179c38d936df1ff
https://doi.org/10.1016/j.ajhg.2020.10.005 -
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المؤلفون: Katrina Tatton-Brown, Miles F. Wilkinson, Jozef Gecz, Deepti Domingo, David Coman, Lachlan A. Jolly, Urwah Nawaz, Mark A. Corbett, Josh L. Espinoza
المصدر: Human molecular genetics. 29(15)
مصطلحات موضوعية: Male, In silico, RNA Splicing, Mutant, Gene regulatory network, Biology, medicine.disease_cause, Speech Disorders, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Genetics, medicine, Humans, Gene Regulatory Networks, RNA, Messenger, Allele, Molecular Biology, Gene, Genetics (clinical), Silent Mutation, 030304 developmental biology, 0303 health sciences, Messenger RNA, Mutation, Infant, RNA-Binding Proteins, General Medicine, Nonsense Mediated mRNA Decay, Codon, Nonsense, Neurodevelopmental Disorders, Child, Preschool, RNA splicing, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0474746f072ddfc22e17c7434cafacb1
https://pubmed.ncbi.nlm.nih.gov/32667670 -
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المؤلفون: Gavin J Sutton, Daniel Poppe, Rebecca K Simmons, Kieran Walsh, Urwah Nawaz, Ryan Lister, Johann A Gagnon-Bartsch, Irina Voineagu
المصدر: Nature communications. 13(1)
مصطلحات موضوعية: Multidisciplinary, Sequence Analysis, RNA, In silico, Gene Expression Profiling, General Physics and Astronomy, Brain, General Chemistry, Computational biology, Human brain, Biology, General Biochemistry, Genetics and Molecular Biology, Novel gene, Transcriptome, Human pancreas, medicine.anatomical_structure, Organ Specificity, DNA methylation, Gene expression, medicine, Humans, RNA, Deconvolution
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المؤلفون: Ingrid E. Scheffer, Jennifer L. Johnson, Hyung-Goo Kim, Michael S. Hildebrand, Ping Jun Zhu, Penelope E. Bonnen, Amanda Brignell, Christine Beeton, Victoria E. Jackson, Abhisek Bhattacharya, N. Tony Eissa, Urwah Nawaz, Yuwei Liu, Redwan Huq, Thomas S. Scerri, Loredana Stoica, Melanie Bahlo, Bo T. Porse, Renee Carroll, Jozef Gecz, Matthew Coleman, Usha Kini, Deepti Domingo, Ola Larsson, Anne Baxter, David J. Amor, Lachlan A. Jolly, Shelly A. Buffington, Mauro Costa-Mattioli, Ruth O Braden, Angela T Morgan
المصدر: Johnson, J L, Stoica, L, Liu, Y, Zhu, P J, Bhattacharya, A, Buffington, S, Huq, R, Eissa, N T, Larsson, O, Porse, B T, Domingo, D, Nawaz, U, Carroll, R, Jolly, L, Scerri, T S, Kim, H-G, Brignell, A, Coleman, M J, Braden, R, Kini, U, Jackson, V, Baxter, A, Bahlo, M, Scheffer, I E, Amor, D J, Hildebrand, M S, Bonnen, P E, Beeton, C, Gecz, J, Morgan, A T & Costa-Mattioli, M 2019, ' Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response ', Neuron, vol. 104, no. 4, pp. 665-679 . https://doi.org/10.1016/j.neuron.2019.08.027
Neuronمصطلحات موضوعية: 0301 basic medicine, Male, Nonsense-mediated decay, autism, Inflammation, speech disorder, immune response, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Research Support, N.I.H., Extramural, Memory, Intellectual disability, medicine, Journal Article, Animals, Humans, Learning, Language Development Disorders, RNA, Messenger, Child, Mice, Knockout, mRNA quality control, business.industry, General Neuroscience, Research Support, Non-U.S. Gov't, RNA-Binding Proteins, Long-term potentiation, medicine.disease, 3. Good health, Nonsense Mediated mRNA Decay, 030104 developmental biology, Phenotype, Autism spectrum disorder, Neurodevelopmental Disorders, Synaptic plasticity, Forebrain, Autism, Drosophila, Female, medicine.symptom, business, Carrier Proteins, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad35e7f7e3352d68951cef438e476e08
https://pubmed.ncbi.nlm.nih.gov/31751540
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