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1دورية أكاديمية
المؤلفون: Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Mauler, DA, Gandolfi, B, Reinero, CR, O'Brien, DP, Spooner, JL, Lyons, LA, Aberdein, Danielle, Alves, Paulo C, Barsh, Gregory S, Beale, Holly C, Boyko, Adam R, Brockman, Jeffrey A, Castelhano, Marta G, Chan, Patricia P, Matthew Ellinwood, N, Fogle, Jonathan E, Garrick, Dorian J, Helps, Christopher R, Hytönen, Marjo K, Kaukonen, Maria, Kaelin, Christopher B, Leclerc, Emilie, Leeb, Tosso, Lohi, Hannes, Longeri, Maria, Malik, Richard, Montague, Michael J, Munday, John S, Murphy, William J, Pedersen, Niels C, Rothschild, Max F, Stern, Joshua A, Swanson, William F, Terio, Karen A, Todhunter, Rory J, Ueda, Yu, Warren, Wesley C, Wilcox, Elizabeth A, Wildschutte, Julia H
المصدر: Journal of Veterinary Internal Medicine. 31(2)
مصطلحات موضوعية: Genetics, HIV/AIDS, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Animals, Cat Diseases, Cats, Female, Genome, Niemann-Pick Disease, Type C, Precision Medicine, Sequence Analysis, DNA, and 99 Lives Consortium, Felis silvestris catus, NPC1, WGS, Feline, Lysosomal storage, Veterinary Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9p01g094
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3دورية أكاديمية
المؤلفون: Nathan Grant, Young Bae Sohn, N. Matthew Ellinwood, Ericka Okenfuss, Bryce A. Mendelsohn, Leslie E. Lynch, Elizabeth A. Braunlin, Paul R. Harmatz, Julie B. Eisengart
المصدر: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100845- (2022)
مصطلحات موضوعية: Newborn screening, Mucopolysaccharidosis type II, Hunter syndrome, Enzyme replacement therapy, Early intervention, Sibling study, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Martin T. Egeland, Marta M. Tarczyluk-Wells, Melissa M. Asmar, Evan G. Adintori, Roger Lawrence, Elizabeth M. Snella, Jackie K. Jens, Brett E. Crawford, Jill C. M. Wait, Emma McCullagh, Jason Pinkstaff, Jonathan D. Cooper, N. Matthew Ellinwood
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-16 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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5دورية أكاديمية
المؤلفون: Lawrance Chandra, Dana C. Borcherding, Dawn Kingsbury, Todd Atherly, Yoko M. Ambrosini, Agnes Bourgois-Mochel, Wang Yuan, Michael Kimber, Yijun Qi, Qun Wang, Michael Wannemuehler, N. Matthew Ellinwood, Elizabeth Snella, Martin Martin, Melissa Skala, David Meyerholz, Mary Estes, Martin E. Fernandez-Zapico, Albert E. Jergens, Jonathan P. Mochel, Karin Allenspach
المصدر: BMC Biology, Vol 17, Iss 1, Pp 1-21 (2019)
مصطلحات موضوعية: Organoid model, Canine, Enteroid, GI diseases, Translational research, Intestinal stem cell, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6
المؤلفون: Ariel Nenninger, Gil Ben‐Shlomo, Rachel Allbaugh, Bethann Valentine, Elizabeth Snella, Jackie Jens, N. Matthew Ellinwood, Jodi Smith
المصدر: Journal of Inherited Metabolic Disease. 46:348-357
مصطلحات موضوعية: Genetics, Genetics (clinical)
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7
المؤلفون: Matthew Ellinwood
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:156-161
مصطلحات موضوعية: Neonatal Screening, Rare Diseases, Research, Infant, Newborn, Genetics, Humans, Child, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::527b3cc36c56fd263e5db1dcfbf2e6eb
https://doi.org/10.1002/ajmg.c.32001 -
8A Bioluminescence Resonance Energy Transfer–Based Reporter System: Characterization and Applications
المؤلفون: Vincent Moeschl, Knut Stieger, Christian Thiel, Philip Kleekamp, Dileep Bonthu, Matthew Ellinwood, Tobias Wimmer, Lyubomyr Lytvynchuk
المصدر: The CRISPR Journal. 4:884-895
مصطلحات موضوعية: Gene Editing, Nuclease, Gene knockdown, biology, DNA repair, Cell biology, chemistry.chemical_compound, Endonuclease, Energy Transfer, Genome editing, chemistry, Genetics, biology.protein, DNA Breaks, Double-Stranded, Luciferase, Guide RNA, CRISPR-Cas Systems, DNA, RNA, Guide, Kinetoplastida, Biotechnology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dae5df1d19c802022540b8a6af5d780f
https://doi.org/10.1089/crispr.2021.0023 -
9دورية أكاديمية
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 4, p 91 (2020)
مصطلحات موضوعية: lysosomal storage disease, mucopolysaccharidoses, glycosaminoglycans, pseudodeficiency, Pediatrics, RJ1-570
وصف الملف: electronic resource
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10
المؤلفون: Dipak Kumar Sahoo, Dana C. Borcherding, Lawrance Chandra, Albert E. Jergens, Todd Atherly, Agnes Bourgois-Mochel, N. Matthew Ellinwood, Elizabeth Snella, Andrew J. Severin, Martin Martin, Karin Allenspach, Jonathan P. Mochel
المصدر: Cancers; Volume 14; Issue 14; Pages: 3525
مصطلحات موضوعية: Cancer Research, Oncology, LPS, enteroids, colonoids, IBD, mast cell tumor, canine, microarray
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f0c030a015d0a05f384305700149c65