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1دورية أكاديمية
المؤلفون: Dharmendra Puri, Brenda J. Barry, Elizabeth C. Engle
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: CFEOM, KIF21A, TUBB3, tublinopathy, tubulin, microtubule, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2023.1226181/fullTest; https://doaj.org/toc/1662-453XTest
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2دورية أكاديمية
المؤلفون: Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin W. Jabs
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)
مصطلحات موضوعية: Congenital facial weakness, Facial paralysis, Clinical genetics, Clinical characterization, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Alan P. Tenney, Jean Livet, Timothy Belton, Michaela Prochazkova, Erica M. Pearson, Mary C. Whitman, Ashok B. Kulkarni, Elizabeth C. Engle, Christopher E. Henderson
المصدر: Cell Reports, Vol 29, Iss 2, Pp 437-452.e4 (2019)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124719311337Test; https://doaj.org/toc/2211-1247Test
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4دورية أكاديمية
المؤلفون: Mervyn G. Thomas, Gail D. E. Maconachie, Helen J. Kuht, Wai-Man Chan, Viral Sheth, Michael Hisaund, Rebecca J. McLean, Brenda Barry, Bashir Al-Diri, Frank A. Proudlock, Zhanhan Tu, Elizabeth C. Engle, Irene Gottlob
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 5, p 2575 (2021)
مصطلحات موضوعية: congenital fibrosis of extraocular muscles, optic nerve hypoplasia, optical coherence tomography, retinal ganglion cells, development, congenital cranial dysinnervation disorders, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/22/5/2575Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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5دورية أكاديمية
المؤلفون: Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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6دورية أكاديمية
المؤلفون: Alban Latremoliere, Long Cheng, Michelle DeLisle, Chen Wu, Sheena Chew, Elizabeth B. Hutchinson, Andrew Sheridan, Chloe Alexandre, Frederic Latremoliere, Shu-Hsien Sheu, Sara Golidy, Takao Omura, Eric A. Huebner, Yanjie Fan, Mary C. Whitman, Elaine Nguyen, Crystal Hermawan, Carlo Pierpaoli, Max A. Tischfield, Clifford J. Woolf, Elizabeth C. Engle
المصدر: Cell Reports, Vol 24, Iss 7, Pp 1865-1879.e9 (2018)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124718311197Test; https://doaj.org/toc/2211-1247Test
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7
المؤلفون: Mary C. Whitman, Nicole M. Gilette, Jessica L. Bell, Seoyoung A. Kim, Max Tischfield, Elizabeth C. Engle
المصدر: Developmental Biology. 490:126-133
مصطلحات موضوعية: Strabismus, Craniosynostoses, Mice, Neural Crest, Oculomotor Muscles, Twist-Related Protein 1, Animals, Cell Biology, Acrocephalosyndactylia, Molecular Biology, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930c8a69372638dd872aab3f572e2089Test
https://doi.org/10.1016/j.ydbio.2022.07.010Test -
8
المؤلفون: Helen J. Kuht, Gail D.E. Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G. Thomas
المصدر: Ophthalmology. 129:708-718
مصطلحات موضوعية: Ophthalmology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0c0059ea27383e7a2b23c16f05d31c34Test
https://doi.org/10.1016/j.ophtha.2022.02.010Test -
9دورية أكاديمية
المؤلفون: Virginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, Sergio B Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo D Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C Engle, Sheila Unger, Frederic Shapiro, Andrea Superti-Furga, Carlo Rivolta, Belinda Campos-Xavier
مصطلحات موضوعية: Uncategorized, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, PISD, Liberfarb syndrome, skeletal dysplasia, retinal degeneration, phospholipid metabolism, PHOSPHATIDYLSERINE DECARBOXYLASE, PHOSPHATIDYLETHANOLAMINE, MUTATIONS, MEMBRANE, PHOSPHATIDYLCHOLINE, BIOSYNTHESIS, MITOCHONDRIA, DISRUPTION, LONP1
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10دورية أكاديمية
المؤلفون: Disi An, Ryosuke Fujiki, Dylan E Iannitelli, John W Smerdon, Shuvadeep Maity, Matthew F Rose, Alon Gelber, Elizabeth K Wanaselja, Ilona Yagudayeva, Joun Y Lee, Christine Vogel, Hynek Wichterle, Elizabeth C Engle, Esteban Orlando Mazzoni
المصدر: eLife, Vol 8 (2019)
مصطلحات موضوعية: stem cell differentiation, ALS, motor neurons, Medicine, Science, Biology (General), QH301-705.5
العلاقة: https://elifesciences.org/articles/44423Test; https://doaj.org/toc/2050-084XTest; e44423; https://doaj.org/article/0f4bd1185c1e462d992daccca11bd0d2Test
الإتاحة: https://doi.org/10.7554/eLife.44423Test
https://doaj.org/article/0f4bd1185c1e462d992daccca11bd0d2Test