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1دورية أكاديمية
المؤلفون: Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital
المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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3دورية أكاديمية
المؤلفون: Caitlin M. A. Simopoulos, Mitchell J. R. MacLeod, Solmaz Irani, Wilson W. L. Sung, Marc J. Champigny, Peter S. Summers, G. Brian Golding, Elizabeth A. Weretilnyk
المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-16 (2020)
مصطلحات موضوعية: Eutrema salsugineum, Thellungiella salsuginea, Transcriptome, lncRNA, Extremophile, Drought stress, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Si Lok, Tara A. Paton, Zhuozhi Wang, Gaganjot Kaur, Susan Walker, Ryan K. C. Yuen, Wilson W. L. Sung, Joseph Whitney, Janet A. Buchanan, Brett Trost, Naina Singh, Beverly Apresto, Nan Chen, Matthew Coole, Travis J. Dawson, Karen Ho, Zhizhou Hu, Sanjeev Pullenayegum, Kozue Samler, Arun Shipstone, Fiona Tsoi, Ting Wang, Sergio L. Pereira, Pirooz Rostami, Carol Ann Ryan, Amy Hin Yan Tong, Karen Ng, Yogi Sundaravadanam, Jared T. Simpson, Burton K. Lim, Mark D. Engstrom, Christopher J. Dutton, Kevin C. R. Kerr, Maria Franke, William Rapley, Richard F. Wintle, Stephen W. Scherer
المصدر: G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 755-773 (2017)
مصطلحات موضوعية: whole-genome sequencing, genome assembly, genome annotation, Canadian beaver, rodent, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2160-1836
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5دورية أكاديمية
المؤلفون: Ghausia Begum, Ammar Albanna, Asma Bankapur, Nasna Nassir, Richa Tambi, Bakhrom K. Berdiev, Hosneara Akter, Noushad Karuvantevida, Barbara Kellam, Deena Alhashmi, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Alawi Alsheikh-Ali, Stephen W. Scherer, Mohammed Uddin
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 4, p 2060 (2021)
مصطلحات موضوعية: long-read sequencing, non-coding RNA, structural variation, whole-genome sequencing (WGS), Oxford Nanopore Technology (ONT), Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6
المؤلفون: Robert, Lesurf, Abdelrahman, Said, Oyediran, Akinrinade, Jeroen, Breckpot, Kathleen, Delfosse, Ting, Liu, Roderick, Yao, Gabrielle, Persad, Fintan, McKenna, Ramil R, Noche, Winona, Oliveros, Kaia, Mattioli, Shreya, Shah, Anastasia, Miron, Qian, Yang, Guoliang, Meng, Michelle Chan Seng, Yue, Wilson W L, Sung, Bhooma, Thiruvahindrapuram, Jane, Lougheed, Erwin, Oechslin, Tapas, Mondal, Lynn, Bergin, John, Smythe, Shashank, Jayappa, Vinay J, Rao, Jayaprakash, Shenthar, Perundurai S, Dhandapany, Christopher, Semsarian, Robert G, Weintraub, Richard D, Bagnall, Jodie, Ingles, Marta, Melé, Philipp G, Maass, James, Ellis, Stephen W, Scherer, M, Zarowiecki
المساهمون: Barcelona Supercomputing Center
المصدر: UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)مصطلحات موضوعية: Genetics & Heredity, RISK, Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Science & Technology, Genetic testing, Cardiomyopathy, FUKUTIN GENE, MEDICAL GENETICS, ASSOCIATION, AMERICAN-COLLEGE, DILATED CARDIOMYOPATHY, Paediatric research, CLASSIFICATION, Gene regulation, carbohydrates (lipids), JOINT CONSENSUS RECOMMENDATION, Genòmica, RESOURCE, Genetics, TRANSCRIPTION FACTOR, Gene expression, Life Sciences & Biomedicine, Molecular Biology, Genetics (clinical), Genetic diseases
وصف الملف: application/pdf; Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c17280981c333134a3fa06d7ec9729
https://hdl.handle.net/2117/364726 -
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المؤلفون: Jacob A. S. Vorstman, Evdokia Anagnostou, Daniele Merico, Jeffrey R. MacDonald, Jennifer L. Howe, Zhuozhi Wang, Ryan K. C. Yuen, Thomas Nalpathamkalam, Judith H. Miles, Carol Negrijn, Miriam S. Reuter, Neal Sondheimer, Bridget A. Fernandez, Stephen W. Scherer, Wilson W L Sung, Kristiina Tammimies, Rohan V. Patel, Worrawat Engchuan, Giovanna Pellecchia, Nicole Takahashi, Mehdi Zarrei, Ada J.S. Chan, Dimitri J. Stavropoulos, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, Brett Trost
مصطلحات موضوعية: Proband, Genetics, Autism spectrum disorder, mental disorders, medicine, Intervention protocols, Transmission disequilibrium test, Biology, medicine.disease, Genome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7de69aa76112317c617021b391f0c972
https://doi.org/10.1101/2021.10.20.21264950 -
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المؤلفون: Pratyusha Attaluri, Wilson W L Sung, Bernard Keavney, Anne S. Bassett, Rebekah K. Jobling, Thomas Nalpathamkalam, Stephen W. Scherer, Candice K. Silversides, Rachel M. Wald, Miriam S. Reuter, Rajiv R. Chaturvedi, Bhooma Thiruvahindrapuram, Omar Hamdan, Simon G. Williams, Giovanna Pellecchia, Christian R. Marshall
المصدر: Circ Genom Precis Med
مصطلحات موضوعية: Male, 0301 basic medicine, Genomics, 030204 cardiovascular system & hematology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, Interaction network, Exome Sequencing, Genetic variation, Clinical genetic, medicine, Humans, Genetic Predisposition to Disease, Protein Interaction Maps, Tetralogy of Fallot, Cyanotic heart defect, Functional protein, business.industry, Infant, Newborn, General Medicine, medicine.disease, 030104 developmental biology, Female, business, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f036db3b03e31607499e47a7ce6e7608
https://doi.org/10.1161/circgen.121.003410 -
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المؤلفون: Charly L Phillips, Sergio L. Pereira, Wilson W L Sung, Syed A Haider, Stephen W. Scherer, Christian R. Marshall, Susan Walker, Charlotte Nguyen, Lisa J. Strug, Akshaya Raajkumar, Edward J Higginbotham, Michael J. Szego, Brett Trost
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Saliva, DNA Copy Number Variations, Genotype, Buccal swab, Eukaryotic DNA replication, Computational biology, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, stomatognathic system, blood, buccal, Methods, Genetics, Humans, Genetics (clinical), Whole blood, Whole genome sequencing, saliva, Whole Genome Sequencing, Mouth Mucosa, DNA, Sequence Analysis, DNA, Buccal administration, Methylation, DNA Methylation, Middle Aged, dna source, stomatognathic diseases, 030104 developmental biology, chemistry, whole-genome sequencing, 030220 oncology & carcinogenesis, Female
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المؤلفون: Rajiv R. Chaturvedi, Christian R. Marshall, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Simon G. Williams, Rebekah K. Jobling, Wilson W L Sung, Bernard Keavney, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Miriam S. Reuter, Anne S. Bassett, Pratyusha Attaluri, Omar Hamdan
مصطلحات موضوعية: TBX1, Genetics, Candidate gene, Genetic heterogeneity, medicine, Biology, medicine.disease, EP300, Sudden death, ATRX, Exome sequencing, Tetralogy of Fallot
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::30f854fe0139f682434e7f13bf10128c
https://doi.org/10.1101/2021.02.17.21251707