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1دورية أكاديمية
المؤلفون: Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
المصدر: PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4849793?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas
المصدر: Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9Test
Genetics in Medicine
Genetics in medicineمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Génétique clinique, Adolescent, PAX6 Transcription Factor, Mutation, Missense, 030105 genetics & heredity, Biology, Microphthalmia, Article, Cohort Studies, Young Adult, 03 medical and health sciences, medicine, Humans, Microphthalmos, Missense mutation, Genetic Predisposition to Disease, Eye Abnormalities, Child, protein destabilization, Genetics (clinical), Genetics, Coloboma, Binding Sites, Anophthalmia, Infant, missense variant, medicine.disease, eye diseases, Pedigree, PAX6, 3. Good health, DNA-Binding Proteins, paired domain, 030104 developmental biology, microphthalmia, Protein destabilization, Aniridia, Child, Preschool, Female, sense organs, Haploinsufficiency
وصف الملف: application/pdf; text; 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334Test
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdfTest -
3دورية أكاديمية
المؤلفون: Bmc Genetics, Ioanna Tzoulaki, Ian Ms White, Isabel M Hanson
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/46/3b/BMC_Genet_2005_May_26_6_27.tar.gz
وصف الملف: application/zip
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المؤلفون: Sally Ann Lynch, R. Alex Henderson, Veronica van Heyningen, Isabel M. Hanson, Michael P. Clarke, Sanjay M. Sisodiya, David R. FitzPatrick, Kathy Williamson, Sally Cumming
المصدر: European Journal of Human Genetics. 15:898-901
مصطلحات موضوعية: Male, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, PAX6 Transcription Factor, Nonsense mutation, Microphthalmia, Gene interaction, Café au lait spot, Genetics, Humans, Microphthalmos, Paired Box Transcription Factors, Medicine, Missense mutation, Eye Proteins, Aniridia, Genetics (clinical), Homeodomain Proteins, Neurofibromin 1, Otx Transcription Factors, business.industry, medicine.disease, eye diseases, Pedigree, Repressor Proteins, Amino Acid Substitution, Child, Preschool, Female, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55de2520bac727f573d312ea2472fc8eTest
https://doi.org/10.1038/sj.ejhg.5201826Test -
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المؤلفون: Michael P. Clarke, James Love, Amanda J. Churchill, Tony Moore, Françoise Meire, Veronica van Heyningen, Isabel M. Hanson, Richard Axton
المصدر: Human Molecular Genetics. 8:165-172
مصطلحات موضوعية: Male, PAX6 Transcription Factor, media_common.quotation_subject, DNA Mutational Analysis, Molecular Sequence Data, Nonsense, Mutation, Missense, Biology, medicine.disease_cause, Cataract, Ectopia Lentis, Nystagmus, Pathologic, Genetics, medicine, Humans, Paired Box Transcription Factors, Missense mutation, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Aniridia, Molecular Biology, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), media_common, Family Health, Homeodomain Proteins, Mutation, Binding Sites, Sequence Homology, Amino Acid, General Medicine, medicine.disease, Phenotype, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Amino Acid Substitution, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333005a723e202b9db0319f2a36e9725Test
https://doi.org/10.1093/hmg/8.2.165Test -
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المؤلفون: Kay Metcalfe, Alison Brown, Veronica van Heyningen, Robin M. Winter, Alessandro Bulfone, Marie Robertson, Alessandro DeGrandi, Sandro Banfi, Dian Donnai, Andrea Ballabio, Giuseppe Borsani, Isabel M. Hanson, Loris Bernard, Claudio Gattuso, Richard Axton, Margherita Mariani, Michael J. Dixon
المساهمون: Borsani, G, Degrandi, A, Ballabio, A, Bulfone, A, Bernard, L, Banfi, Sandro, Gattuso, C, Mariani, M, Dixon, M, Donnai, D, Metcalfe, K, Winter, R, Robertson, M, Axton, R, Brown, A, van Heyningen, V, Hanson, I.
المصدر: Human Molecular Genetics. 8:11-23
مصطلحات موضوعية: DNA, Complementary, Molecular Sequence Data, Sequence Homology, Genes, Insect, Biology, Eye, Homology (biology), Mice, Species Specificity, Gene mapping, Complementary, Centromere, Gene expression, Genetics, Animals, Humans, Drosophila Proteins, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Molecular Biology, Gene, Peptide sequence, In Situ Hybridization, Genetics (clinical), Sequence Homology, Amino Acid, Base Sequence, Alternative splicing, Alternative Splicing, Chromosome Mapping, Drosophila, Mutation, Trans-Activators, DNA, General Medicine, Amino Acid, Genes, Insect, Drosophila Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3794d67e8444628e9cc197cebf945fb4Test
https://doi.org/10.1093/hmg/8.1.11Test -
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المؤلفون: Richard Axton, Isabel M. Hanson
المصدر: Technical Tips Online. 3(1):56-59
مصطلحات موضوعية: Cloning & Sequencing, law, Cloning sequencing, Mutation detection, Biology, Nested polymerase chain reaction, Molecular biology, Polymerase chain reaction, law.invention
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f503430c86cbcc212642bacffbd2894cTest
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المؤلفون: Stephanie Le Hellard, Isabel M. Hanson
المصدر: Frontiers in Neuroscience
Frontiers in Neuroscience, Vol 6 (2012)مصطلحات موضوعية: Genetics, cognition, General Neuroscience, Perspective (graphical), Differential psychology, Neurogenetics, imaging, Cognition, Conference report, lcsh:RC321-571, Functional imaging, Endophenotype, Perspective Article, GWAS, genetics, Psychology, neurogenetics, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genome-Wide Association Study, Tractography, Theme (narrative), Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7f09a53bc546b9e28d2a523b775b19bTest
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المؤلفون: Dinah Rahman, Paul S. Freemont, John Trowsdale, Nicola O’Reilly, Darryl J. Pappin, Gerard I. Evan, Ruth C. Lovering, Isabel M. Hanson, Katherine L. B. Borden, Stephen R. Martin
المصدر: Proceedings of the National Academy of Sciences. 90:2112-2116
مصطلحات موضوعية: Molecular Sequence Data, Biology, Protein Structure, Secondary, Cell Line, Kelch motif, Tumor Cells, Cultured, Ring finger, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Structural motif, Polycomb Repressive Complex 1, Genetics, Zinc finger, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Zinc Fingers, Cobalt, DNA, Oncogenes, DNA-Binding Proteins, RING finger domain, Zinc, Tetratricopeptide, medicine.anatomical_structure, Spectrophotometry, PHD finger, RNA, Poly A, Sequence motif, HeLa Cells, Protein Binding, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d545f722710b9be09bd2490146f702d0Test
https://doi.org/10.1073/pnas.90.6.2112Test -
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المؤلفون: Isabel M. Hanson, Simon T. Cooper
المصدر: BMC Genetics, Vol 6, Iss 1, p 43 (2005)
BMC Geneticsمصطلحات موضوعية: Cytoplasmic Dyneins, endocrine system, PAX6 Transcription Factor, Transcription, Genetic, lcsh:QH426-470, Ubiquitin-Protein Ligases, Plasma protein binding, Biology, medicine.disease_cause, Conserved sequence, Tripartite Motif Proteins, Homer Scaffolding Proteins, Two-Hybrid System Techniques, Genetics, medicine, Transcriptional regulation, Humans, Paired Box Transcription Factors, Eye Proteins, Amino Acid Sequence, Gene, Genetics (clinical), Conserved Sequence, Homeodomain Proteins, Neurons, Mutation, Dyneins, eye diseases, Repressor Proteins, lcsh:Genetics, PAX6, sense organs, Carrier Proteins, Protein Binding, Transcription Factors, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd0a2f355b94badacad78ec8733b455Test
http://www.biomedcentral.com/1471-2156/6/43Test