المؤلفون: Layla Burn, Nicholas Gutowski, Jacqueline Whatmore, Georgios Giamas, Md Zahidul Islam Pranjol

المصدر: Frontiers in Bioscience-Landmark, Vol 26, Iss 9, Pp 590-601 (2021)

مصطلحات موضوعية: astrocytes, blood brain barrier, metastasis, endothelium, Biochemistry, QD415-436, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.imrpress.com/journal/FBL/26/9/10.52586/4969; https://doaj.org/toc/2768-6701

URL الوصول: https://doaj.org/article/a8dd03746a3748ea9058397b9fccd0da

المؤلفون: Md Zahidul Islam Pranjol, Nicholas Gutowski, Michael Hannemann, Jacqueline Whatmore

المصدر: Biomolecules, Vol 5, Iss 4, Pp 3260-3279 (2015)

مصطلحات موضوعية: epithelial ovarian cancer, angiogenesis, metastasis, cathepsin D, cathepsin L, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2218-273X/5/4/3260; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/ae6303a066734cfeab519ba4a574f4f0

المؤلفون: Rita Horvath, Nicholas Gutowski, Mark Greenslade, Anirban Majumdar, Rohini Rattihalli, Christopher Buxton, Geraint Fuller, Lorenzo Maggi, Adnan Y. Manzur, N. Forrester, David Dick, Julia Rankin

المصدر: Journal of neuromuscular diseases. 7(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Glycine-tRNA Ligase, Male, Adolescent, Disease, DNA sequencing, Muscular Atrophy, Spinal, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Allele, Child, Gene, Sequence (medicine), Genetics, Aminoacyl tRNA synthetase, business.industry, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, 030104 developmental biology, Neurology, chemistry, Glycyl-tRNA synthetase, Child, Preschool, Failure to thrive, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4cbaf02e74f16af7d512340217b95b
https://pubmed.ncbi.nlm.nih.gov/31985473

المؤلفون: Brian T. Wilson, Vasiliki Nakou, Henry Houlden, Angela Barnicoat, Joost Nicolai, Miriam S. Reuter, Patrick Rump, F Lucy Raymond, Nicholas W. Wood, Serena Barral, Sanjay Bhate, Jonathan R. Chubb, Manju A. Kurian, Michèl A.A.P. Willemsen, Esther Meyer, André Reis, Nicola Foulds, Shekeeb S Mohammed, Kathryn J. Peall, Patricia Limousin, Apostolos Papandreou, Margaret Kaminska, Magnus Nilsson, Russell C. Dale, Susan M. White, Paul Gissen, Hilla Ben-Pazi, Gregory Peters, Christopher Wragg, Zvi Israel, Jean-Pierre Lin, Sarah Wiethoff, Simon Pope, Deciphering Developmental Disorders Study, William A. Gahl, Alan Pittman, Niccolo E. Mencacci, Wui K. Chong, Margje Sinnema, Dagmar Wieczorek, Erik-Jan Kamsteeg, Martin Smith, A. Hills, John M.E. Nichols, Shane McKee, Keren J. Carss, Maya Topf, S Heales, Gidon Winter, Amber Boys, Hardev Pall, Peter D. Turnpenny, Camilo Toro, Julia Rankin, Jane A. Hurst, Reeval Segel, Nicholas Gutowski, Hagai Bergman, Niklas Darin, Shibalik Misra, Lucinda Carr, Agnel Praveen Joseph, Joanne Ng, Deborah Morrogh, David Arkadir, Detelina Grozeva, Adeline Ngoh, Daniel E. Lumsden, Belén Pérez-Dueñas, Prab Prabhakar, Kailash P. Bhatia

المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: Nature Genetics, 49, 223-237
Nature Genetics, 49(2), 223-237. Nature Publishing Group
Nature Genetics, 49, 2, pp. 223-237

مصطلحات موضوعية: 0301 basic medicine, Male, Methyltransferase, Deep brain stimulation, Adolescent, Histone lysine methylation, DISORDERS, medicine.medical_treatment, VARIANTS, Bioinformatics, bcs, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], MECHANISMS, Histones, 03 medical and health sciences, BRAIN IRON ACCUMULATION, Genetics, medicine, KABUKI SYNDROME, Humans, Laryngeal dystonia, Dystonia, Regulation of gene expression, biology, Lysine, METHYLATION, NEURODEGENERATION, Nuclear Proteins, Histone-Lysine N-Methyltransferase, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], DNA-Binding Proteins, 030104 developmental biology, Histone, Histone methyltransferase, Mathematik, Mutation, biology.protein, Histone Methyltransferases, UPDATE, Female, PROTEIN STABILITY, LEUKEMIA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c4afa1a02017040dfcd473edd7a70e
http://hdl.handle.net/2066/169757

المؤلفون: Esther Meyer, Manju A. Kurian, Sanjay Bhate, Jean-Pierre Lin, Agnel Praveen Joseph, Angela Barnicoat, F. Lucy Raymond, Jonathan R. Chubb, Niklas Darin, Shibalik Misra, Lucinda Carr, Joanne Ng, Deborah Morrogh, Julia Rankin, Henry Houlden, Erik-Jan Kamsteeg, Martin Smith, Patricia Limousin, Shane McKee, David Arkadir, Sarah Wiethoff, Hilla Ben-Pazi, Patrick Rump, Wui K. Chong, John M.E. Nichols, Michèl A.A.P. Willemsen, William A. Gahl, Gregory Peters, Detelina Grozeva, S Heales, Camilo Toro, André Reis, Shekeeb S Mohammed, Simon Pope, Deciphering Developmental Disorders Study, Adeline Ngoh, Joost Nicolai, Zvi Israel, Russell C. Dale, Nicholas W. Wood, Serena Barral, Niccolo E. Mencacci, Dagmar Wieczorek, Hardev Pall, Gidon Winter, Vasiliki Nakou, Peter D. Turnpenny, Prab Prabhakar, Kailash P. Bhatia, Alan Pittman, Margje Sinnema, Christopher Wragg, Keren J. Carss, Maya Topf, Amber Boys, Apostolos Papandreou, Hagai Bergman, Reeval Segel, Jane A. Hurst, Susan M. White, Nicholas Gutowski, A. Hills, Margaret Kaminska, Daniel E. Lumsden, Belén Pérez-Dueñas, Nicola Foulds, Kathryn J. Peall, Paul Gissen, Miriam S. Reuter, Magnus Nilsson, Brian T. Wilson

المصدر: Nature Genetics. 49:969-969

مصطلحات موضوعية: 0301 basic medicine, Dystonia, Biology, medicine.disease, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Histone methyltransferase, Genetics, medicine, Gene, 030217 neurology & neurosurgery, Early onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69549ab27950c3d4c6826a114208dfb0
https://doi.org/10.1038/ng0617-969b

المؤلفون: Tim Hodgson, Marcia Chamberlain, Benjamin Parris, Martin James, Nicholas Gutowski, Masud Husain, Christopher Kennard

المصدر: Brain: A Journal of Neurology; Jun2007, Vol. 130 Issue 6, p1525-1525, 1p

مصطلحات موضوعية: EYE movements, FRONTAL lobe, CEREBRAL cortex, SACCADIC eye movements