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المؤلفون: Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard
المساهمون: Public Health Sciences, Pediatrics, Faculty of Medicine and Pharmacy, Clinical sciences, Medical Genetics, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Reproduction and Genetics
المصدر: Banka, S, Bennington, A, Baker, M J, Clemente, G, Rijckmans, E & Millard, T H 2022, ' Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. ', Brain, vol. 145, no. 12, awac049, pp. 4232-4245 . https://doi.org/10.1093/brain/awac049
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049 <http://dx.doi.org/10.1093/brain/awac049>
Banka, S, Bennington, A, Baker, M J, Rijckmans, E, Clemente, G D, Ansor, N M, Sito, H, Prasad, P, Anyane-Yeboa, K, Badalato, L, Dimitrov, B, Fitzpatrick, D, Hurst, A C E, Jansen, A C, Kelly, M A, Krantz, I, Rieubland, C, Ross, M, Rudy, N L, Sanz, J, Stouffs, K, Xu, Z L, Malliri, A, Kazanietz, M G & Millard, T H 2022, ' Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology ', Brain . https://doi.org/10.1093/brain/awac049مصطلحات موضوعية: Neurons, Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, WAVE regulatory complex, 610 Medicine & health, small GTPases, Megalencephaly, Mice, Neurodevelopmental Disorders, intellectual disability, NIH 3T3 Cells, Animals, Neurology (clinical), polymicrogyria, RAC1, Signal Transduction
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59ac0233908bd46903a99816ffede10
https://hdl.handle.net/1983/7f3c39a1-5287-457f-ac73-0cedb02ece00 -
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المؤلفون: Anuja Lipsa, Inaki Irastorza, Elif Yilmaz Gulec, Elżbieta Szmida, Robert Smigiel, Gisèle Bonne, Mireille COSSEE, Tirso Pons, Edward Wylęgała, Joanne Kotelawala, Cristian Pattaro, Ihssane El Bouchikhi, Anna Doraczynska-Kowalik, Filip Van Nieuwerburgh, Maria Sasiadek, Vasudha Mishra, Ryszard Ślęzak, Eugenio Ferro, Mariana Santos, Nadezda Shilova, Joanna Kozłowska, Nurhuda Mohamad Ansor
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: 0106 biological sciences, 0303 health sciences, Pediatrics, medicine.medical_specialty, Abstracts Collection, business.industry, medicine.disease, 010603 evolutionary biology, 01 natural sciences, Fabry disease, 03 medical and health sciences, Genetics, medicine, business, Genetics (clinical), 030304 developmental biology
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المؤلفون: Fernanda Leite, Laure Ho, Grace McIntyre, Agata Witkowska, Nurhuda Mohamad Ansor
المصدر: Molecular Biology of the Cell
مصطلحات موضوعية: Cell Biology, ASCB Annual Meeting Abstracts, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57480c35291a7fefc5d2ccc14e9fda2
http://europepmc.org/articles/PMC7927196 -
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المؤلفون: Nicholas Katsanis, Katie Clarkson, Grazia M.S. Mancini, Margot R.F. Reijnders, Ken Corning, Rolph Pfundt, Han G. Brunner, Carlo Marcelis, Thomas H. Millard, Nurhuda Mohamad Ansor, Ronald D. Cohn, Wyatt W. Yue, Siddharth Banka, Shehla Mohammed, Perciliz L. Tan, Jill Clayton-Smith, David Chitayat, Julie R. Jones, Wayne W.K. Lam, Maian Roifman, Maria Kousi
المساهمون: Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Clinical Genetics
المصدر: American Journal of Human Genetics, 101(3), 466-477. Cell Press
American Journal of Human Genetics, 101, 466-477
Reijners, M, Mohamad Ansor, N, Kousi, M, Yue, W, Tan, P, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, J, Lam, W, Mancini, G, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chiayat, D, Millard, T, Katsanis, N, Brunner, H & Banka, S 2017, ' RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes ', American Journal of Human Genetics, vol. 101, no. 3, pp. 466-477 . https://doi.org/10.1016/j.ajhg.2017.08.007
American Journal of Human Genetics, 101, 3, pp. 466-477مصطلحات موضوعية: Male, rac1 GTP-Binding Protein, 0301 basic medicine, Microcephaly, Embryo, Nonmammalian, INTELLECTUAL DISABILITY, Developmental Disabilities, VARIANTS, Mice, 0302 clinical medicine, Missense mutation, Child, Zebrafish, Genetics (clinical), Genetics, Brain Diseases, biology, RHO GTPASES, CDC42, Phenotype, Pedigree, FAMILY, Child, Preschool, SURVIVAL, GROWTH, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Adolescent, In silico, Mutation, Missense, Context (language use), 03 medical and health sciences, Report, medicine, Animals, Humans, Amino Acid Sequence, Allele, Gene, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, biology.organism_classification, medicine.disease, 030104 developmental biology, 030217 neurology & neurosurgery, SYSTEM
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المصدر: BMC Complementary and Alternative Medicine
مصطلحات موضوعية: Reishi, Angiotensin-Converting Enzyme Inhibitors, Fractionation, Peptidyl-Dipeptidase A, Proteomics, Fungal Proteins, Sugar, IC50, Chromatography, High Pressure Liquid, Mycelium, Analysis of Variance, Chromatography, Reverse-Phase, Fungal protein, biology, Chemistry, Angiotensin-converting enzyme, General Medicine, Lingzhi, ACE inhibitory proteins, Yeast, Bioactive peptides/proteins, Complementary and alternative medicine, Biochemistry, MALDI-TOF/TOF MS, Hypertension, biology.protein, Research Article
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