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المؤلفون: Paul N. Mainwaring, Mostak Ahmed, Matt Trau, Ester Marina Zarate, Muhammad J. A. Shiddiky, Darren Korbie, Laura G. Carrascosa, Abu Ali Ibn Sina, Kelin Ru
المصدر: Biosensors and Bioelectronics. 91:8-14
مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Lung Neoplasms, Protein Conformation, medicine.drug_class, Biomedical Engineering, Biophysics, Biosensing Techniques, Tyrosine-kinase inhibitor, 03 medical and health sciences, 0302 clinical medicine, Protein structure, Cell Line, Tumor, Electrochemistry, medicine, Humans, Protein phosphorylation, Phosphorylation, Lung, Protein Kinase Inhibitors, biology, Chemistry, Cancer, Electrochemical Techniques, Equipment Design, General Medicine, medicine.disease, ErbB Receptors, 030104 developmental biology, Biochemistry, 030220 oncology & carcinogenesis, biology.protein, Gold, Antibody, Tyrosine kinase, Function (biology), Biotechnology
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المؤلفون: Matt Trau, Andrew D. Johnston, Jennifer Lu, Kelin Ru, Darren Korbie
المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019)مصطلحات موضوعية: 0301 basic medicine, Measure (data warehouse), Multidisciplinary, business.industry, Computer science, Dimer, lcsh:R, lcsh:Medicine, Pattern recognition, Article, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Multiplex polymerase chain reaction, lcsh:Q, Artificial intelligence, Primer (molecular biology), lcsh:Science, business, 030217 neurology & neurosurgery
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المؤلفون: Joseph M. Devaney, Cas Simons, Brent L. Fogel, Guy Helman, Joanna Crawford, Miriam Bloom, Marjo S. van der Knaap, Vani Rajan, Shimul Chowdhury, David M. Miller, Tina Hambuch, Nathan McNeill, Amirah Khouzam, Ryan J. Taft, Amy Pizzino, Nicole I. Wolf, Geneviève Bernard, Sarah H. Evans, Erica Ramos, Kelin Ru, Raphael Schiffmann, Johanna L. Schmidt, Jennifer L. Murphy, Gregory J. Baillie, Sean M. Grimmond, Adeline Vanderver, Asako Takanohashi, Ljubica Caldovic
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Other departments
المصدر: Annals of Neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Annals of neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Vanderver, A, Simons, C, Helman, G, Crawford, J, Wolf, N I, Bernard, G, Pizzino, A, Schmidt, J L, Takanohashi, A, Miller, D, Khouzam, A, Rajan, V, Ramos, E, Chowdhury, S, Hambuch, T, Ru, K, Baillie, G J, Grimmond, S M, Caldovic, L, Devaney, J, Bloom, M, Evans, S H, Murphy, J L P, McNeill, N, Fogel, B L, Schiffmann, R, van der Knaap, M S & Taft, R J 2016, ' Whole Exome Sequencing in Patients with White Matter Abnormalities ', Annals of Neurology, vol. 79, no. 6, pp. 1031-1037 . https://doi.org/10.1002/ana.24650مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Disease, Biology, Article, Leukoencephalopathy, White matter, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Internal medicine, medicine, Humans, Exome, Child, Exome sequencing, Leukodystrophy, medicine.disease, White Matter, 030104 developmental biology, Clinical research, medicine.anatomical_structure, Neurology, Child, Preschool, Cohort, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery
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المؤلفون: Matthew Hobbs, Christine Ender, Gregory J. Baillie, Joanna Crawford, Kelin Ru, Ryan J. Taft, John S. Mattick
مصطلحات موضوعية: Histone H3, Small RNA, Histone, biology, biology.protein, H3K4me3, Nucleosome, RNA, Epigenetics, Chromatin, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fb44630bc713a05435ff751364323b2
https://doi.org/10.1101/265827 -
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المؤلفون: Alexander Dobrovic, Ida L M Candiloro, Matt Trau, Darren Korbie, Jennifer Lu, Kelin Ru
المصدر: Scientific Reports
مصطلحات موضوعية: 0301 basic medicine, Multidisciplinary, Binding Sites, DNA-encoded chemical library, Bisulfite sequencing, Computational Biology, Nucleic acid amplification technique, DNA Methylation, Molecular biology, Article, Bisulfite, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, CpG site, chemistry, Multiplex polymerase chain reaction, Humans, Multiplex, CpG Islands, Multiplex Polymerase Chain Reaction, Nucleic Acid Amplification Techniques, Cytosine
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المؤلفون: Jennifer Lu, Kelin Ru, Philippe Berichon, Andrew Johnston, Darren Korbie, Matt Trau
المصدر: Scientific Reports
مصطلحات موضوعية: 0301 basic medicine, Computer science, Statistics as Topic, Computational biology, Genome, Article, 03 medical and health sciences, chemistry.chemical_compound, Multiplex polymerase chain reaction, Humans, Sulfites, Multiplex, DNA Primers, Internet, Multidisciplinary, High-Throughput Nucleotide Sequencing, Amplicon, Bisulfite, 030104 developmental biology, CpG site, chemistry, DNA methylation, Primer (molecular biology), Dimerization, Multiplex Polymerase Chain Reaction, DNA, Algorithms, Software
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المؤلفون: Stephen A. Damiani, Petra J. W. Pouwels, Joanna Crawford, Truus E.M. Abbink, Paul J. Lockhart, Prab Prabhakar, Ishwar Chander Verma, Ryan J. Taft, Tena Rosser, Nicole I. Wolf, Kate Pope, Cas Simons, Irenaeus F.M. de Coo, David Miller, Adeline Vanderver, Richard J. Leventer, Marjo S. van der Knaap, Susan Blaser, Monica Juneja, Marianna R. Bevova, Julian Raiman, Kelin Ru, Johanna L. Schmidt, Sean M. Grimmond
المساهمون: Other departments, Physics and medical technology, Human genetics, Pediatric surgery, NCA - Brain mechanisms in health and disease, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Neurology
المصدر: American journal of human genetics, 92(5), 774-780. Cell Press
Taft, R J, Vanderver, A, Leventer, R J, Damiani, S A, Simons, C, Grimmond, S M, Miller, D, Schmidt, J, Lockhart, P J, Pope, K, Ru, K L, Crawford, J, Rosser, T, de Coo, I F M, Juneja, M, Verma, I C, Prabhakar, P, Blaser, S, Raiman, J, Pouwels, P J W, Bevova, M R, Abbink, G E M, van der Knaap, M S & Wolf, N I 2013, ' Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity ', American journal of human genetics, vol. 92, no. 5, pp. 774-780 . https://doi.org/10.1016/j.ajhg.2013.04.006
Taft, R J, Vanderver, A, Leventer, R J, Damiani, S A, Simons, C, Grimmond, S M, Miller, D, Schmidt, J, Lockhart, P J, Pope, K, Ru, K L, Crawford, J, Rosser, T, de Coo, I F M, Juneja, M, Verma, I C, Prabhakar, P, Blaser, S, Raiman, J, Pouwels, P J W, Bevova, M R, Abbink, G E M, van der Knaap, M S & Wolf, N I 2013, ' Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity ', American Journal of Human Genetics, vol. 92, no. 5, pp. 774-780 . https://doi.org/10.1016/j.ajhg.2013.04.006
American Journal of Human Genetics, 92(5), 774-780. Cell Pressمصطلحات موضوعية: Nonsynonymous substitution, Models, Molecular, Pathology, medicine.medical_specialty, Protein Conformation, Aspartate-tRNA Ligase, Biology, medicine.disease_cause, Crystallography, X-Ray, Leukoencephalopathy, Leukoencephalopathies, Report, medicine, Genetics, Humans, Genetics(clinical), Spasticity, Gene, Genetics (clinical), Exome sequencing, Mutation, Leg, Molecular pathology, Spinal cord, medicine.disease, medicine.anatomical_structure, Spinal Cord, Muscle Spasticity, medicine.symptom, Brain Stem
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المؤلفون: Marcel E. Dinger, Chanel E. Smart, John S. Mattick, Sunil R. Lakhani, Michael B. Clark, Ana Christina Vargas, Juliet D. French, Ella R. Thompson, Tim R. Mercer, Martin A. Smith, Melissa A. Brown, Ian G. Campbell, Joanna Crawford, Kelin Ru, Marjan E. Askarian-Amiri
مصطلحات موضوعية: RNA, Untranslated, Tumor suppressor gene, Transcription, Genetic, Breast Neoplasms, Biology, Article, Cell Line, Mice, Mammary Glands, Animal, Gene expression, Biomarkers, Tumor, Animals, Humans, RNA, Small Nucleolar, Small nucleolar RNA, Mammary Glands, Human, Molecular Biology, Gene, beta Catenin, Epithelial cell differentiation, Regulation of gene expression, RNA, Non-coding RNA, Molecular biology, Cell biology, Alternative Splicing, Gene Expression Regulation, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6c658f79b4a5f38816a2ac0701cee2
https://ora.ox.ac.uk/objects/uuid:dbb80b3a-6a6d-4a3f-a294-9e8e306732bf -
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المؤلفون: Kevin R. Gillinder, Marcel E. Dinger, Michael R. Tallack, Lorena Di Lisio, Paulo P. Amaral, Andrew C. Perkins, Joanna Crawford, Charles C. Bell, Anton M.F. Kalsbeek, Franziska Gruhl, Graham Magor, Pierre Tangermann, Jessica E. Frith, John S. Mattick, Seth W. Cheetham, Kelin Ru
المصدر: Scientific Reports
مصطلحات موضوعية: 0301 basic medicine, Mesoderm, animal structures, Body Patterning, Locus (genetics), Bone Morphogenetic Protein 4, Biology, Article, Mice, 03 medical and health sciences, Exon, Genome editing, Wnt3A Protein, medicine, Animals, Clustered Regularly Interspaced Short Palindromic Repeats, Gene, Gene Editing, Homeodomain Proteins, Genetics, Multidisciplinary, Gastrulation, Gene Expression Regulation, Developmental, Embryo, Mammalian, 030104 developmental biology, medicine.anatomical_structure, embryonic structures, RNA, Long Noncoding, CRISPR-Cas Systems, Homeotic gene, WNT3A
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المؤلفون: Adeline Jacquinet, Linlin Ma, Ben Cristofori-Armstrong, Lachlan D. Rash, Serhat Guler, Cas Simons, David Miller, Michael T. Gabbett, John G. Cleary, Gozde Yesil, Yasemin Alanay, Glenn F. King, Kelin Ru, Gregory J. Baillie, Joseph J. Shen, Julie McGaughran, Ryan J. Taft, Sean M. Grimmond, Joanna Crawford, Adnan Yuksel, François-Guillaume Debray, Alain Verloes
المساهمون: YEŞİL, Gözde
مصطلحات موضوعية: Male, Protein Conformation, Recombinant Fusion Proteins, Molecular Sequence Data, Mutation, Missense, Nails, Malformed, Biology, medicine.disease_cause, Epilepsy, Xenopus laevis, Simons C., Rash L. D. , Crawford J., Ma L., Cristofori-Armstrong B., Miller D., Ru K., Baillie G. J. , Alanay Y., Jacquinet A., et al., -Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy-, NATURE GENETICS, cilt.47, ss.73-0, 2015, Dravet syndrome, Intellectual Disability, Genetics, medicine, Missense mutation, Animals, Humans, Amino Acid Sequence, Child, Conserved Sequence, Mutation, Sequence Homology, Amino Acid, Mosaicism, Infant, Voltage-gated potassium channel, Exons, medicine.disease, Hypoplasia, Ether-A-Go-Go Potassium Channels, Developmental disorder, HEK293 Cells, Thumb, Child, Preschool, Oocytes, Hallux, Female, Temple Baraitser syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e319095db6636a6641ff57e6a2624cac
https://hdl.handle.net/20.500.12645/7234
