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pro vyhledávání: '"Allan, Emma"'
Akademický článek
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Autor:
Bell, Rachel M.B., Villalobos, Elisa, Nixon, Mark, Miguelez-Crespo, Allende, Murphy, Lee, Fawkes, Angie, Coutts, Audrey, Sharp, Matthew G.F., Koerner, Martha V., Allan, Emma, Meijer, Onno C., Houtman, Renè, Odermatt, Alex, Beck, Katharina R., Denham, Scott G., Lee, Patricia, Homer, Natalie Z.M., Walker, Brian R., Morgan, Ruth A.
Publikováno v:
In Molecular Metabolism June 2021 48
Autor:
Monchalin, Renée, Lesperance, Alexa, Flicker, Sarah, Forrest, Shane, Allan, Emma A, Xavier, Chloé G
Publikováno v:
AlterNative: An International Journal of Indigenous Peoples; Dec2023, Vol. 19 Issue 4, p804-813, 10p
Autor:
Handley, Mark T., Reddy, Kaalak, Wills, Jimi, Rosser, Elisabeth, Kamath, Archith, Halachev, Mihail, Falkous, Gavin, Williams, Denise, Cox, Phillip, Meynert, Alison, Raymond, Eleanor S., Morrison, Harris, Brown, Stephen, Allan, Emma, Aligianis, Irene, Jackson, Andrew P., Ramsahoye, Bernard H., von Kriegsheim, Alex, Taylor, Robert W., Finch, Andrew J., FitzPatrick, David R.
Publikováno v:
Handley, M, Reddy, K, Wills, J, Rosser, E, Kamath, A, Halachev, M, Falkous, G, Williams, D, Cox, P, Meynert, A, Raymond, E, Morrison, H, Brown, S, Allan, E, Aligianis, I, Jackson, A P, Ramsahoye, B H, Von Kriegsheim, A, Taylor, R W, Finch, A J & FitzPatrick, D R 2019, ' ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy ', PLoS Genetics . https://doi.org/10.1371/journal.pgen.1007605
PLoS Genetics, Vol 15, Iss 3, p e1007605 (2019)
PLoS Genetics
PLoS Genetics, Vol 15, Iss 3, p e1007605 (2019)
PLoS Genetics
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated “mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::58172ab4cb60969507720c711a47a224
https://www.pure.ed.ac.uk/ws/files/80919071/ITPase_Deficiency_Causes_a_Martsolf_Like_Syndrome_With_a_Lethal_Infantile_Dilated_Cardiomyopathy.docx
https://www.pure.ed.ac.uk/ws/files/80919071/ITPase_Deficiency_Causes_a_Martsolf_Like_Syndrome_With_a_Lethal_Infantile_Dilated_Cardiomyopathy.docx
Autor:
Allan, Emma
Learning objectives Background Findings and procedure details Conclusion Personal information References
Learning objectives: 1. Review the indications for lines and tubes in the ICU setting. 2. Identify anatomical landmarks for assessing lines
Learning objectives: 1. Review the indications for lines and tubes in the ICU setting. 2. Identify anatomical landmarks for assessing lines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26127e812b118e1488861dbba25100b6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Ivanes, Fabrice, Faccenda, Danilo, Gatliff, Jemma, Ahmed, Ahmed A, Cocco, Stefania, Cheng, Carol Ho Ka, Allan, Emma, Russell, Claire, Duchen, Michael R, Campanella, Michelangelo
Publikováno v:
British Journal of Pharmacology; Sep2014, Vol. 171 Issue 18, p4193-4206, 14p
Autor:
Ivanes, Fabrice, Faccenda, Danilo, Gatliff, Jemma, Ahmed, Ahmed A, Cocco, Stefania, Cheng, Carol Ho Ka, Allan, Emma, Russell, Claire, Duchen, Michael R, Campanella, Michelangelo
Publikováno v:
British Journal of Pharmacology; Sep2014, Vol. 171 Issue 18, p4193-4206, 14p, 5 Graphs
Autor:
Handley MT; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Section of Genetics, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kigndom., Reddy K; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; University of Florida College of Medicine, Center for NeuroGenetics, Gainesville, United States of America., Wills J; Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Rosser E; Department of Clinical Genetics, Great Ormond St Hospital, London, United Kingdom., Kamath A; Medical School, University of Oxford, John Radcliffe Hospital Oxford United Kingdom., Halachev M; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Falkous G; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom., Williams D; Department of Clinical Genetics, Birmingham Women's and Children's NHSFT, Birmingham, United Kingdom., Cox P; Department of Histopathology, Birmingham Women's and Children's NHSFT, Birmingham United Kingdom., Meynert A; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Raymond ES; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Morrison H; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Brown S; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Allan E; CBS-IGMM Transgenic Unit, University of Edinburgh, Edinburgh, United Kingdom., Aligianis I; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Jackson AP; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Ramsahoye BH; Centre for Genetic and Experimental Medicine, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., von Kriegsheim A; Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom., Finch AJ; Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Publikováno v:
PLoS genetics [PLoS Genet] 2019 Mar 11; Vol. 15 (3), pp. e1007605. Date of Electronic Publication: 2019 Mar 11 (Print Publication: 2019).