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1دورية أكاديمية
المؤلفون: Wen-Hann Tan, Katherine Anderson, Anjali Sadhwani, Ping Yee Billie Au, Carlos Bacino, Elizabeth Berry-Kravis, Cyrus Boelman, Robert Carson, Margaret DeRamus, Jessica Duis, Kara Murias, Cesar Ochoa-Lubinoff, Sarika Peters, Erick Sell, Steven Skinner, Amy Talboy, Anne Wheeler, Logan Wink, Angela Gwaltney, Lynne Bird
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100116- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423001164Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Evdokia Angelidis, Arthur Beisang, Timothy Benke, Daniel Glaze, Richard Haas, Peter Heydemann, Mary Jones, Jane Lane, David Lieberman, Eric Marsh, Jeffrey Neul, Sarika Peters, Robin Ryther, Steven Skinner, Shannon Standridge, Walter Kaufmann, Alan Percy, Caroline Buchanan
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100134- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423001346Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
المصدر: Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
مصطلحات موضوعية: GPI, Anchor biosynthesis defects, Automated image analysis, Gene, Prediction, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-017-0510-5Test; https://doaj.org/toc/1756-994XTest
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4دورية أكاديمية
المؤلفون: José A. Herrera, Christopher S. Ward, Meagan R. Pitcher, Alan K. Percy, Steven Skinner, Walter E. Kaufmann, Daniel G. Glaze, Xander H. T. Wehrens, Jeffrey L. Neul
المصدر: Disease Models & Mechanisms, Vol 8, Iss 4, Pp 363-371 (2015)
مصطلحات موضوعية: Long QT, Rett syndrome, Propranolol, Phenytoin, Arrhythmia, MECP2, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: http://dmm.biologists.org/content/8/4/363Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test
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5دورية أكاديمية
المؤلفون: Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M Ward, Craig Munns, Kathleen Motil, Daniel Tarquinio, Jay R Shapiro, Torkel Brismar, Bruria Ben-Zeev, Anne-Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane Lane, Gunilla Larsson, Meir Lotan, Alan Percy, Mercedes Pineda, Steven Skinner, Birgit Syhler, Sue Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs
المصدر: PLoS ONE, Vol 11, Iss 2, p e0146824 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4743907?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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6
المؤلفون: M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S. Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe
المصدر: The Journal of Molecular Diagnostics. 25:175-188
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f4dcef9fae3e909217e79ef8f9de8968Test
https://doi.org/10.1016/j.jmoldx.2022.12.005Test -
7دورية أكاديمية
المؤلفون: Julien C. Vantourout (9461890), Andrew M. Mason (2119783), Josephine Yuen (2485606), Graham L. Simpson (1523503), Ghotas Evindar (1370346), Letian Kuai (1264671), Michael Hobbs (7401971), Emma Edgar (5894981), Saul Needle (10063482), Xiaopeng Bai (2643814), Steve Wilson (71342), Paul Scott-Stevens (6321608), William Traylen (10063485), Kim Lambert (10063488), Neil Young (3413366), Shenaz Bunally (10063491), Scott G. Summerfield (3005832), Richard Snell (10063494), Rakesh Lad (10063497), Eric Shi (2504092), Steven Skinner (1971115), Lisa Shewchuk (1523839), Allan J.B. Watson (10063500), Chun-wa Chung (1343454), Sandeep Pal (1954993), Dennis A. Holt (3024240), Lara S. Kallander (1523863), Joanne Prendergast (5475158), Katrina Rivera (4419814), David G. Washburn (2989575), Mark R. Harpel (345389), Christopher Arico-Muendel (1665247), Albert Isidro-Llobet (1369611)
مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Molecular Biology, Pharmacology, Biotechnology, Cancer, Mental Health, Hematology, Chemical Sciences not elsewhere classified, small-molecule noncovalent HSA binder, vivo half-life, AlbuBinder 1, conjugate, half-live, BMP, half-life extension technologies, Vivo Half-Life Extension, KI, Small-Molecule Human Serum Albumin ., half-life extension
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8
المؤلفون: Jessica A. Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Jennifer Stallworth, Jessica Worthington, Caroline Black Buchanan, David B. Everman, Steven Skinner, Michael J. Friez, Julie R. Jones, Catherine J. Spellicy
المصدر: American Journal of Medical Genetics Part A. 188:2988-2998
مصطلحات موضوعية: Male, Phenotype, Methyl-CpG-Binding Protein 2, Mosaicism, Mutation, Rett Syndrome, Genetics, Humans, Female, DNA, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94a396225f8cb742fb842cc9a03f8deTest
https://doi.org/10.1002/ajmg.a.62913Test -
9دورية أكاديمية
المؤلفون: Allen Husker, Igor Stubailo, Martin Lukac, Alma Quezada, Steven Skinner, Irving Flores, Paul Davis, Richard Guy, Deborah Estrin
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/06t6m9mbTest
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10دورية أكاديمية
المؤلفون: Allen Husker, Igor Stubailo, Martin Lukac, Alma Quezada, Steven Skinner, Irving Flores, Paul Davis, Richard Guy, Deborah Estrin
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2h1844r3Test