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1دورية أكاديمية
المؤلفون: Donna McDonald-McGinn, Victoria Giunta, T. Blaine Crowley, Daniel McGinn, Lydia Rockart, Audrey Green, Beverly Emanuel, Rosemarie Smith, Ellen Moran, Maciej Geremek, Elaine Zackai, Beata Nowakowska
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101114- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002607Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann
المصدر: PLoS Genetics, Vol 12, Iss 4, p e1005848 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4847778?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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المؤلفون: Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
المصدر: Journal of Medical Genetics. 60:352-358
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e071db2a8852fc35068d0b77792c16d7Test
https://doi.org/10.1136/jmg-2022-108521Test -
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المؤلفون: James P. Hamilton, Kyle P. Horne, Mark E. Levenstein, Brandon Robinson, Alana Wakefield, Katie Lameyer, Austin Rickertsen, Madison Meuth, Noah Milder, Adam Wildman, Mary Ellen Moran, Ethan Taylor
المصدر: Optical Manufacturing and Testing XIV.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d95e6ac4c3472b8d11de7c535c00218eTest
https://doi.org/10.1117/12.2646368Test -
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المؤلفون: Rosanna Weksberg, Courtney Kiss, Marta Szybowska, Nina Ekhilevitch, Irina Anselm, David A. Sweetser, Michael Marble, Kristin Lindstrom, Cara Forster, Haley Streff, Renata C. Gallagher, John Pappas, Jessica Nance, Patricia G Wheeler, Melissa A. Walker, Grace Yoon, Carl E. Stafstrom, Weiyi Mu, Mary Kay Koenig, Wei Wang, Jane Juusola, Lauren C. Briere, Eric Muller, Julie S. Cohen, E. Hallie Andrew, Frances A. High, Cheryl Cytrynbaum, Jamie L. Fraser, Joel B. Krier, Hannah Meddaugh, Ali Fatemi, Robert E. Kingston, Kristin W. Barañano, Bridget Ostrem, Maria J. Guillen Sacoto, Ellen Moran, Marvin R. Natowicz, Karin Weiss, Erin Torti, Iva A. Tchasovnikarova, William J. Craigen, Cara Inglese, Andrea Guerin, Matthew J. Elrick, Devon Haynes, Chantal F. Morel, Adam L. Numis
المصدر: Am J Hum Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Microcephaly, Adolescent, Biology, Chromatin remodeling, Craniofacial Abnormalities, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual Disability, Report, Intellectual disability, Genetics, medicine, Humans, Child, Growth Disorders, Genetics (clinical), Exome sequencing, Adenosine Triphosphatases, Genetic Diseases, Inborn, Infant, Spinal muscular atrophy, Hyporeflexia, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, medicine.symptom, 030217 neurology & neurosurgery, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe48c69116fc39c7b9900e63ac29144Test
https://doi.org/10.1016/j.ajhg.2020.06.013Test -
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المؤلفون: Ellen Moran Taya Williams, Sharon Clancy, Farzana Khan, Sasha Josette
المصدر: Soundings. 72:90-104
مصطلحات موضوعية: Power (social and political), Political education, Political economy, Political science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d6db054c350e15d774766772cba034d1Test
https://doi.org/10.3898/soun.72.06.2019Test -
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المؤلفون: Ulrike Hueffmeier, Cornelia Kraus, Miriam Reuter, Steffen Uebe, Mary-Alice Abbott, Syed Ahmed, Kristyn Rawson, Eileen Barr, Hong Li, ange-line bruel, Laurence Faivre, Frederic Tran Mau Them, Christina Botti, Susan Brooks, Kaitlyn Burns, Isum Ward, Marina Dutra-Clarke, Julian Martinez-Agosto, Hane Lee, Stanley Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie MacGaughran, Juergen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Rothschild, Maria Guillen Sacoto, Lindsay Henderson, Timothy Palculict, Sureni Mullegama, Houda Elloumi, Adi Reich, Samantha Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a3012b08b39e8a11e46330ffe77c2a4Test
https://doi.org/10.22541/au.160253804.44054844/v1Test -
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المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone
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10صورة
المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone