نتائج البحث - "systematic phenotyping"

المساهمون: MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: FHML non-thematic output, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics

المصدر: Human Mutation, 38(5), 594-599. Wiley
Human Mutation, 38, 594-599
Human Mutation, 38, 5, pp. 594-599
Vulto-van Silfhout, A T, Gilissen, C, Goeman, J J, Jansen, S, van Amen-Hellebrekers, C J M, van Bon, B W M, Koolen, D A, Sistermans, E A, Brunner, H G, de Brouwer, A P M & de Vries, B B A 2017, ' Quantification of Phenotype Information Aids the Identification of Novel Disease Genes ', Human Mutation, vol. 38, no. 5, pp. 594-599 . https://doi.org/10.1002/humu.23176Test
Human Mutation, 38(5), 594-599. Wiley-Liss Inc.
Human Mutation, 38(5), 594-599

مصطلحات موضوعية: 0301 basic medicine, Mutation rate, INTELLECTUAL DISABILITY, Genotype, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], systematic phenotyping, AUTISM SPECTRUM DISORDERS, de novo mutations, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, statistical approach, Genetic Predisposition to Disease, phenotype features, Gene, Genetics (clinical), Genetic Association Studies, patient cohorts, Disease gene, Models, Statistical, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Models, Genetic, DEVELOPMENTAL DELAY, Reproducibility of Results, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Phenotype, 3. Good health, ONTOLOGY, 030104 developmental biology, DE-NOVO MUTATIONS, DISCOVERY, Cohort, IMPLICATE, Identification (biology), Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceac5989af2baf914b4529d117b5dc2Test
http://www.scopus.com/inward/record.url?scp=85011707913&partnerID=8YFLogxKTest

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دورية أكاديمية

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

المؤلفون: Vulto-van Silfhout, Anneke T., Gilissen, Christian, Goeman, Jelle J., Jansen, Sandra, van Amen-Hellebrekers, Claudia J. M., van Bon, Bregje W. M., Koolen, David A., Sistermans, Erik A., Brunner, Han G., de Brouwer, Arjan P. M., de Vries, Bert B. A.

المصدر: Vulto-van Silfhout , A T , Gilissen , C , Goeman , J J , Jansen , S , van Amen-Hellebrekers , C J M , van Bon , B W M , Koolen , D A , Sistermans , E A , Brunner , H G , de Brouwer , A P M & de Vries , B B A 2017 , ' Quantification of Phenotype Information Aids the Identification of Novel Disease Genes ' , Human Mutation , vol. 38 , no. 5 , pp. 594-599 . https://doi.org/10.1002/humu.23176Test

مصطلحات موضوعية: phenotype features, de novo mutations, systematic phenotyping, statistical approach, intellectual disability, patient cohorts, DE-NOVO MUTATIONS, AUTISM SPECTRUM DISORDERS, DEVELOPMENTAL DELAY, IMPLICATE, DISCOVERY, ONTOLOGY

الإتاحة: https://doi.org/10.1002/humu.23176Test
https://cris.maastrichtuniversity.nl/en/publications/14b25b17-6cce-40b4-9045-434cc1df0df7Test

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Parallel reverse genetic screening in mutant human cells using transcriptomics - Data and analyses

المؤلفون: Gapp, Bianca V, Konopka, Tomasz, Penz, Thomas, Dalal, Vineet, Burckstummer, Tilmann, Bock, Christoph, Nijman, Sebastian MB

مصطلحات موضوعية: multiplexed RNA sequencing, reverse genetics, parallel screening, systematic phenotyping, kinases

العلاقة: https://zenodo.org/record/51842Test; https://doi.org/10.5281/zenodo.51842Test; oai:zenodo.org:51842

الإتاحة: https://doi.org/10.5281/zenodo.51842Test
https://zenodo.org/record/51842Test

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Parallel reverse genetic screening in mutant human cells using transcriptomics

المؤلفون: Vineet Dalal, Sebastian M.B. Nijman, Tilmann Bürckstümmer, Bianca V. Gapp, Christoph Bock, Tomasz Konopka, Thomas Penz

المصدر: Molecular Systems Biology

مصطلحات موضوعية: 0301 basic medicine, Genotype, systematic phenotyping, ved/biology.organism_classification_rank.species, Methods & Resources, Biology, Chromatin, Epigenetics, Genomics & Functional Genomics, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, Gene Knockout Techniques, Genome editing, Report, multiplexed RNA sequencing, Humans, Model organism, Gene, Genetics, General Immunology and Microbiology, ved/biology, Sequence Analysis, RNA, Applied Mathematics, Gene Expression Profiling, parallel screening, Molecular Sequence Annotation, Protein-Tyrosine Kinases, Isogenic human disease models, Reverse genetics, Reverse Genetics, Gene expression profiling, 030104 developmental biology, kinases, Phenotype, Computational Theory and Mathematics, Human genome, General Agricultural and Biological Sciences, Information Systems, Genetic screen, Reports

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e74fb5cc24b03950b0e6ac0ff4c5eaTest
http://ora.ox.ac.uk/objects/uuidTest:

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