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1دورية أكاديمية
المؤلفون: Smadar Kahana-Edwin, James Torpy, Lucy E. Cain, Anna Mullins, Geoffrey McCowage, Sarah E. Woodfield, Sanjeev A. Vasudevan, Dan P. T. Shea, Andre E. Minoche, Andres F. Espinoza, Sarah Kummerfeld, Leonard D. Goldstein, Jonathan Karpelowsky
المصدر: Cancers, Vol 16, Iss 1, p 12 (2023)
مصطلحات موضوعية: hepatoblastoma, ctDNA, NGS, AFP, ddPCR, liquid biopsy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Andre E. Minoche, Ben Lundie, Greg B. Peters, Thomas Ohnesorg, Mark Pinese, David M. Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld, Leslie Burnett, Marcel E. Dinger, Mark J. Cowley
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
مصطلحات موضوعية: Structural variation, Copy number variation, Whole genome sequencing, Microarray, Clinical genome, Rare disease, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
المؤلفون: Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 7, p 3905 (2022)
مصطلحات موضوعية: inherited retinal dystrophy, whole genome sequencing, gene panels, RNA analysis, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/7/3905Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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4دورية أكاديمية
المؤلفون: Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 46-51 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426918300715Test; https://doaj.org/toc/2214-4269Test
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5دورية أكاديمية
المؤلفون: Rocio Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou
المصدر: Genes, Vol 12, Iss 4, p 607 (2021)
مصطلحات موضوعية: mitochondria, heteroplasmy, genome sequencing, respiratory chain, mutation, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Matt A Field, Sonu Yadav, Olga Dudchenko, Meera Esvaran, Benjamin D Rosen, Ksenia Skvortsova, Richard J Edwards, Jens Keilwagen, Blake J Cochran, Bikash Manandhar, Sonia Bustamante, Jacob Agerbo Rasmussen, Richard G Melvin, Barry Chernoff, Arina Omer, Zane Colaric, Eva KF Chan, Andre E Minoche, Timothy PL Smith, M Thomas P Gilbert, Ozren Bogdanovic, Robert A Zammit, Torsten Thomas, Erez L Aiden, John Ballard
مصطلحات موضوعية: Uncategorized, Animals, Australia, Breeding, Canidae, Dogs, Phylogeny, Wolves, Dingos
الإتاحة: https://doi.org/10.26181/19719670.v1Test
https://figshare.com/articles/journal_contribution/The_Australian_dingo_is_an_early_offshoot_of_modern_breed_dogs_/19719670Test -
7دورية أكاديمية
المؤلفون: Andre E. Minoche (10199078), Ben Lundie (10199081), Greg B. Peters (10199084), Thomas Ohnesorg (228225), Mark Pinese (52475), David M. Thomas (10199087), Andreas Zankl (60186), Tony Roscioli (206558), Nicole Schonrock (247630), Sarah Kummerfeld (10199090), Leslie Burnett (10199093), Marcel E. Dinger (10199096), Mark J. Cowley (8964485)
مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Pharmacology, Cancer, Infectious Diseases, Virology, Computational Biology, Space Science, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Information Systems not elsewhere classified, Structural variation, Copy number variation, Whole genome sequencing, Microarray, Clinical genome, Rare disease
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8دورية أكاديمية
المؤلفون: Andre E. Minoche (10199078), Ben Lundie (10199081), Greg B. Peters (10199084), Thomas Ohnesorg (228225), Mark Pinese (52475), David M. Thomas (10199087), Andreas Zankl (60186), Tony Roscioli (206558), Nicole Schonrock (247630), Sarah Kummerfeld (10199090), Leslie Burnett (10199093), Marcel E. Dinger (10199096), Mark J. Cowley (8964485)
مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Pharmacology, Cancer, Infectious Diseases, Virology, Computational Biology, Space Science, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Information Systems not elsewhere classified, Structural variation, Copy number variation, Whole genome sequencing, Microarray, Clinical genome, Rare disease
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9
المؤلفون: Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, Gene Dosage, Mutation, Missense, Mothers, Nerve Tissue Proteins, Locus (genetics), Biology, Young Adult, X Chromosome Inactivation, Report, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Skewed X-inactivation, Genetics (clinical), X chromosome, Hemizygote, Symporters, Australia, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Face, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f32c7a2dbf50567179c38d936df1ffTest
https://doi.org/10.1016/j.ajhg.2020.10.005Test -
10
المؤلفون: Lisa J. Ewans, Andre E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli
المصدر: European journal of human genetics : EJHG. 30(10)
مصطلحات موضوعية: Base Sequence, Whole Genome Sequencing, Exome Sequencing, Genetics, Chromosome Mapping, Humans, Exome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6f9de4b9af8f6385a7da9953edaf85Test
https://pubmed.ncbi.nlm.nih.gov/35970915Test