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1دورية أكاديمية
المؤلفون: Luke Buerer, Nathaniel E. Clark, Anastasia Welch, Chaorui Duan, Allison J. Taggart, Brittany A. Townley, Jing Wang, Rachel Soemedi, Stephen Rong, Chien-Ling Lin, Yi Zeng, Adam Katolik, Jonathan P. Staley, Masad J. Damha, Nima Mosammaparast, William G. Fairbrother
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Christy L Rhine, Kamil J Cygan, Rachel Soemedi, Samantha Maguire, Michael F Murray, Sean F Monaghan, William G Fairbrother
المصدر: PLoS Genetics, Vol 14, Iss 3, p e1007231 (2018)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ana Töpf, Helen R Griffin, Elise Glen, Rachel Soemedi, Danielle L Brown, Darroch Hall, Thahira J Rahman, Jyrki J Eloranta, Christoph Jüngst, A Graham Stuart, John O'Sullivan, Bernard D Keavney, Judith A Goodship
المصدر: PLoS ONE, Vol 9, Iss 8, p e95453 (2014)
وصف الملف: electronic resource
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المؤلفون: Christy L. Rhine, William G. Fairbrother, Chien-Ling Lin, David T. Glidden, Allison J Taggart, Alger M. Fredericks, Rachel Soemedi, Kamil J. Cygan
المصدر: Methods. 125:36-44
مصطلحات موضوعية: 0301 basic medicine, RNA Folding, RNA Splicing, Exonic splicing enhancer, RNA-binding protein, Computational biology, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Nucleic acid secondary structure, 03 medical and health sciences, Splicing factor, RNA Precursors, Animals, Humans, Molecular Biology, Protein secondary structure, Zebrafish, RNA, Double-Stranded, Genetics, Intron, Exons, Immunity, Innate, Introns, Protein tertiary structure, G-Quadruplexes, 030104 developmental biology, Mutation, RNA splicing
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المؤلفون: Jing Wang, Pinar Bayrak-Toydemir, John Yang, Jamie McDonald, Christy L. Rhine, Kamil J. Cygan, William G. Fairbrother, Charlston Bulacan, Rachel Soemedi
المصدر: Nature genetics
مصطلحات موضوعية: 0301 basic medicine, RNA Splicing, DNA Mutational Analysis, Biology, medicine.disease_cause, Genome, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, Allele, Gene, Mutation, Models, Genetic, Genome, Human, High-Throughput Nucleotide Sequencing, Proteins, RNA-Binding Proteins, Exons, 3. Good health, 030104 developmental biology, RNA splicing, Spliceosomes, RNA Splice Sites, Haploinsufficiency, Functional genomics, 030217 neurology & neurosurgery
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المؤلفون: Michael F. Murray, Kamil J. Cygan, Samantha Maguire, Christy L. Rhine, William G. Fairbrother, Rachel Soemedi, Sean F. Monaghan
المصدر: PLoS Genetics
PLoS Genetics, Vol 14, Iss 3, p e1007231 (2018)مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.disease_cause, GTP Phosphohydrolases, Exon, Mathematical and Statistical Techniques, Neoplasms, Medicine and Health Sciences, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Genetics, Mutation, BRCA1 Protein, Nonsense Mutation, Exons, Genomics, Lynch syndrome, 3. Good health, MutS Homolog 2 Protein, Genetic Diseases, RNA splicing, Physical Sciences, MutL Protein Homolog 1, Statistics (Mathematics), Research Article, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Gene prediction, RNA Splicing, Biology, Research and Analysis Methods, Genome Complexity, 03 medical and health sciences, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Statistical Methods, Molecular Biology Techniques, Gene Prediction, Gene, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Clinical Genetics, Point mutation, Gene Mapping, Autosomal Dominant Diseases, Intron, Biology and Life Sciences, Computational Biology, Hereditary Nonpolyposis Colorectal Cancer, medicine.disease, Genome Analysis, digestive system diseases, Introns, lcsh:Genetics, 030104 developmental biology, Exon Mapping, Mathematics, Forecasting
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المؤلفون: Michael F. Murray, Kamil J. Cygan, William G. Fairbrother, Eileen L. Murphy, Rachel Soemedi, Abraham Profeta, Christy L. Rhine
مصطلحات موضوعية: 0301 basic medicine, RNA Splicing, Retinal Neoplasms, Ubiquitin-Protein Ligases, Exonic splicing enhancer, Prp24, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Cell Line, Tumor, Genetics, medicine, Humans, Exome, RNA, Neoplasm, Genetics (clinical), Mutation, Alternative splicing, Retinoblastoma, B vitamins, Retinoblastoma Binding Proteins, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9866d5ed094cc78d8fcaf249c3c0a409
https://europepmc.org/articles/PMC6699175/ -
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المؤلفون: Judith A. Goodship, Jamie Bentham, Jeroen Breckpot, Rebecca Darlay, Ana Töpf, Elise Glen, Shoumo Bhattacharya, Darroch Hall, Frances A. Bu'Lock, Mark Lathrop, Bernard Keavney, Catherine Cosgrove, Rachel Soemedi, Mauro Santibanez-Koref, Chris Thornborough, Matthew E. Hurles, Michael Hofbeck, J. David Brook, Heather J. Cordell, Thahira Rahman, Ni Huang, Koenraad Devriendt, Anita Rauch, Gillian M. Blue, Ian J. Wilson, Javier T. Granados-Riveron, Kerry Setchfield, David S. Winlaw
المساهمون: University of Zurich, Keavney, Bernard D
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Heart Defects, Congenital, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Single-nucleotide polymorphism, Locus (genetics), 610 Medicine & health, 030204 cardiovascular system & hematology, Biology, Connexins, 03 medical and health sciences, 0302 clinical medicine, 1311 Genetics, Gene Duplication, Gene duplication, Chromosome Duplication, Genetics, 1312 Molecular Biology, Humans, Molecular Biology, Gene, Genotyping, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Chromosome, General Medicine, Gene rearrangement, Articles, Penetrance, Phenotype, Chromosomes, Human, Pair 1, Tetralogy of Fallot, 570 Life sciences, biology, Chromosome Deletion
وصف الملف: Soemedi_et_al,_Phenotype-specific_effect.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475341c08aec81dabf74845a2ef688cf
http://doc.rero.ch/record/299498/files/ddr589.pdf -
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المؤلفون: Judith A. Goodship, Aoy Tomita-Mitchell, Marwan K. Tayeh, Jeffrey W. Innis, Thor Thorsson, Mark W. Russell, Ana Töpf, Rachel Soemedi, Todd Ackley, Bernard Keavney, Jill A. Rosenfeld, William W. Russell, Nour El-Kashlan, Sarah B. Geisler, Jonathan Levine
المصدر: Congenital Heart Disease. 10:193-208
مصطلحات موضوعية: Genetics, Heart development, business.industry, General Medicine, Bioinformatics, Critical regions, Meta-analysis, Pediatrics, Perinatology and Child Health, Cardiac defects, Medicine, Radiology, Nuclear Medicine and imaging, Surgery, In patient, Cardiology and Cardiovascular Medicine, business, Gene
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المؤلفون: Ozge Ceyhan-Birsoy, Alan H. Beggs, Pankaj B. Agrawal, William G. Fairbrother, Carlos Hidalgo, Klaus Schmitz-Abe, Elizabeth T. DeChene, Susan T. Iannaccone, Lindsay C. Swanson, Henk Granzier, Kyriacos Markianos, Jocelyn Laporte, Rachel Soemedi, Natasha Shur, Nasim Vasli, Perry B. Shieh, Jane M. Dennison, Michael W. Lawlor
المصدر: Neurology. 81:1205-1214
مصطلحات موضوعية: Adult, Male, Adolescent, Genes, Recessive, Muscle disorder, Compound heterozygosity, Cohort Studies, Dynamin II, Young Adult, medicine, Humans, Connectin, Single-Blind Method, Centronuclear myopathy, Child, Myopathy, Exome sequencing, Adaptor Proteins, Signal Transducing, Genetics, biology, Tumor Suppressor Proteins, Nuclear Proteins, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Congenital myopathy, DNM2, Phenotype, Child, Preschool, Mutation, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, Myopathies, Structural, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f2e13e9513220c018c1bd66a2a3e368
https://doi.org/10.1212/wnl.0b013e3182a6ca62
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