Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Marcia Ferguson"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100613- (2020)
Biallelic pathogenic variants in mitochondrial aminoacyl-tRNA synthetase (mt-aaRS) PARS2 are associated with mitochondrial cytopathy. Here, we report the tenth case of an individual with biallelic PARS2 pathogenic variants, detected by exome sequenci
Externí odkaz:
https://doaj.org/article/1a39aba0fd5e482389a2400a3ac2feee
Autor:
Marcia Ferguson
Publikováno v:
Theater and Human Flourishing ISBN: 0197622267
This chapter liberates the subject of touch in theater from its reputation as a site of potential danger (in its ability to trigger, dominate, [re]traumatize, or otherwise adversely affect students, practitioners, and audiences) and from its position
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9952f1e8da41684f853e3b73d60e303c
https://doi.org/10.1093/oso/9780197622261.003.0011
https://doi.org/10.1093/oso/9780197622261.003.0011
Autor:
Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742
International audience; Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the disco
Autor:
Yiyun Zhou, Antonie D. Kline, Mary L. Collins, Marcia Ferguson, Jennifer Billiet, Alex V. Levin
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 26:e62
Autor:
Marcia Ferguson
Publikováno v:
Timescales
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a12e12ad28f382676e2f8ed2fdb17c7
https://doi.org/10.5749/j.ctv1cdxg76.8
https://doi.org/10.5749/j.ctv1cdxg76.8
Autor:
Antonie D. Kline, Carolina I. Galarreta, Usha Kini, Jeroen Breckpot, Jillian S. Parboosingh, P.Y. Billie Au, Klaas J. Wierenga, Dorothy K. Grange, Elizabeth A. Fanning, Gail E. Graham, Caitlin Goedhart, Marilyn C. Jones, Marcia Ferguson, A. Micheil Innes, Helen Stewart, Koenraad Devriendt
Publikováno v:
European Journal of Human Genetics. 26:1272-1281
Au–Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K),
It is in the best interest of Europe and other receiving countries to have successful adaptations among their immigrant populations. International research suggests that well-informed policies and practices are necessary for the successful incorporat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::f779dd0232c773d675faed555dbbc838
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2791883
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2791883
Autor:
Marcia Ferguson
Publikováno v:
Theatre Journal. 56:283-284