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1دورية أكاديمية
المؤلفون: Eddie Ip, Gavin Chapman, David Winlaw, Sally L. Dunwoodie, Eleni Giannoulatou
المصدر: Genomics, Proteomics & Bioinformatics, Vol 17, Iss 5, Pp 540-545 (2019)
مصطلحات موضوعية: Biology (General), QH301-705.5, Computer applications to medicine. Medical informatics, R858-859.7
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Lakshmikanth L. Chikkamenahalli, Erik Jessen, Cheryl E. Bernard, W.K. Eddie Ip, Margaret Breen-Lyles, Gianluca Cipriani, Suraj R. Pullapantula, Ying Li, Shefaa AlAsfoor, Laura Wilson, Kenneth L. Koch, Braden Kuo, Robert J. Shulman, Bruno P. Chumpitazi, Travis J. McKenzie, Todd A. Kellogg, James Tonascia, Frank A. Hamilton, Irene Sarosiek, Richard McCallum, Henry P. Parkman, Pankaj J. Pasricha, Thomas L. Abell, Gianrico Farrugia, Surendra Dasari, Madhusudan Grover
المصدر: iScience, Vol 27, Iss 3, Pp 108991- (2024)
مصطلحات موضوعية: Gastroenterology, Immunology, Transcriptomics, Science
وصف الملف: electronic resource
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3دورية أكاديمية
المصدر: Cell Reports, Vol 43, Iss 2, Pp 113746- (2024)
مصطلحات موضوعية: CP: Immunology, CP: Metabolism, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie, Eddie Ip
المصدر: Genomics, Proteomics & Bioinformatics, Vol 17, Iss 5, Pp 540-545 (2019)
Genomics, Proteomics & Bioinformaticsمصطلحات موضوعية: Heart Diseases, Computer science, computer.software_genre, Biochemistry, Customizable ranking, Ranking (information retrieval), 03 medical and health sciences, Annotation, User-Computer Interface, 0302 clinical medicine, Documentation, Application Note, Databases, Genetic, Exome Sequencing, Genetics, Humans, 3-Hydroxyanthranilate 3,4-Dioxygenase, Molecular Biology, lcsh:QH301-705.5, 030304 developmental biology, computer.programming_language, 0303 health sciences, Polymorphism, Genetic, Variant prioritization, Python (programming language), Weighting, Computational Mathematics, Identification (information), lcsh:Biology (General), Scalability, Next-generation sequencing, Data mining, Genomic annotation, Pathogenicity predictions, computer, 030217 neurology & neurosurgery, Algorithms, Test data
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المؤلفون: Michael Troup, Eleni Giannoulatou, Edwin P. Kirk, Gopinath Perumal, Sally L. Dunwoodie, Gary F. Sholler, Richard P. Harvey, Haifa Hong, Emma Rath, Eddie Ip, Mauk Mekel, David S. Winlaw, Jinfen Liu, Debjani Das, Gillian M. Blue, Jozef Gecz, Mikhail Gudkov
المصدر: American heart journal. 244
مصطلحات موضوعية: Heart Defects, Congenital, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Whole Genome Sequencing, Molecular pathology, business.industry, Transposition of Great Vessels, Infant, Newborn, Brain, Disease, Arteries, Bioinformatics, medicine.disease, Genetic architecture, Ciliopathy, Great arteries, medicine, Medical genetics, Humans, Copy-number variation, Cardiology and Cardiovascular Medicine, business, Heterotaxy
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المؤلفون: Gavin Chapman, Michael Troup, Joshua W. K. Ho, Gillian M. Blue, Annabelle Enriquez, Eleni Giannoulatou, Meredith Wilson, Edwin P. Kirk, Jacob E Munro, Eddie Ip, David T. Humphreys, Gary F. Sholler, Robert M. Graham, Nicholas Pachter, David S. Winlaw, Sally L. Dunwoodie, Katrina Harrison, Hartmut Cuny, Dimuthu Alankarage, Justin O. Szot, Richard P. Harvey
المصدر: Genetics in Medicine. 21:1111-1120
مصطلحات موضوعية: 0301 basic medicine, Proband, medicine.medical_specialty, Molecular pathology, business.industry, Disease, 030105 genetics & heredity, Bioinformatics, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Cohort, medicine, Etiology, Medical genetics, business, Gene, Genetics (clinical)
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المؤلفون: Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
المصدر: Hum Mol Genet
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Heterozygote, RNA Splicing, Limb Deformities, Congenital, Anal Canal, Haploinsufficiency, Biology, Kidney, 03 medical and health sciences, Mice, 0302 clinical medicine, Esophagus, Loss of Function Mutation, Genetics, medicine, Missense mutation, Animals, Humans, Abnormalities, Multiple, Allele, Molecular Biology, Renal agenesis, Genetics (clinical), Heterozygote advantage, General Medicine, medicine.disease, VACTERL association, Null allele, Spine, DNA-Binding Proteins, Trachea, 030104 developmental biology, WBP11, RNA Splicing Factors, General Article, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258 -
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المؤلفون: Alison Loughran-Fowlds, Gillian M. Blue, Eddie Ip, Karen Walker, Sally L. Dunwoodie, Eleni Giannoulatou, Nadia Badawi, Gary F. Sholler, Edwin P. Kirk, David S. Winlaw, Richard P. Harvey
المصدر: American Heart Journal. 201:33-39
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, medicine.medical_specialty, Brain development, Heart disease, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, Gene Frequency, Polymorphism (computer science), medicine, Humans, In patient, Cardiac Surgical Procedures, Allele frequency, Retrospective Studies, business.industry, Infant, Newborn, Retrospective cohort study, DNA, medicine.disease, Cardiac surgery, Minor allele frequency, 030104 developmental biology, Neurodevelopmental Disorders, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
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المؤلفون: Steven Monger, Eleni Giannoulatou, Michael Troup, Eddie Ip, Sally L. Dunwoodie
المصدر: Bioinformatics. 35:4405-4407
مصطلحات موضوعية: Statistics and Probability, chemistry.chemical_classification, 0303 health sciences, Computer science, RNA Splicing, In silico, 030305 genetics & heredity, Exons, Genomics, Computational biology, Biochemistry, Computer Science Applications, 03 medical and health sciences, Computational Mathematics, INDEL Mutation, Computational Theory and Mathematics, chemistry, RNA splicing, Scalability, splice, Nucleotide, Indel, Molecular Biology, Software, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c5ed05233f12677e53f09b2884ce20
https://doi.org/10.1093/bioinformatics/btz263 -
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المصدر: Science. 356:513-519
مصطلحات موضوعية: 0301 basic medicine, Inflammasomes, medicine.medical_treatment, Interleukin-1beta, Oxidative phosphorylation, Biology, Article, Mice, 03 medical and health sciences, NLR Family, Pyrin Domain-Containing 3 Protein, Mitophagy, medicine, Animals, Humans, Receptors, Interleukin-10, PI3K/AKT/mTOR pathway, Inflammation, Multidisciplinary, DDIT4, TOR Serine-Threonine Kinases, Macrophages, Inflammasome, Macrophage Activation, Colitis, Inflammatory Bowel Diseases, Mice, Mutant Strains, Interleukin-10, Mitochondria, Cell biology, Intestines, Disease Models, Animal, Interleukin 10, 030104 developmental biology, Cytokine, Immunology, biology.protein, Signal transduction, Reactive Oxygen Species, Signal Transduction, Transcription Factors, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0cb4a24c1fc66d084c19453de435480
https://doi.org/10.1126/science.aal3535