Zobrazeno 1 - 10 of 812 pro vyhledávání: '"J. C., Smith"'
1
Akademický článek
Sanfilippo syndrome: consensus guidelines for clinical care
Autor: Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)
Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisy
Externí odkaz: https://doaj.org/article/a5ad5c79ef39448c83fadab522d1e902
Zobrazit plný text záznamu
2
Akademický článek
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder
Autor: Raman Kumar, Mark A. Corbett, Nicholas J. C. Smith, Daniella H. Hock, Zoya Kikhtyak, Liana N. Semcesen, Atsushi Morimoto, Sangmoon Lee, David A. Stroud, Joseph G. Gleeson, Eric A. Haan, Jozef Gecz
Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family with two affected c
Externí odkaz: https://doaj.org/article/3573a379dbf14bad94f8b937feac8378
Zobrazit plný text záznamu
4
Additional file 29 of The migratory pathways of the cells that form the endocardium, dorsal aortae, and head vasculature in the mouse embryo
Autor: C. Collart, A. Ciccarelli, K. Ivanovitch, I. Rosewell, S. Kumar, G. Kelly, A. Edwards, J. C. Smith
Additional file 29. Clusters of top and bottom samples (A, B) t-distributed stochastic neighbour embedding (t-SNE) plots, showing clusters of cells of the ‘top’ part (as shown in Fig. 4a) of twenty-five (E7.25-E7.5) embryos, and the localisation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0af103f6d56e5825840966259a9e9086
Zobrazit plný text záznamu
5
Additional file 13 of The migratory pathways of the cells that form the endocardium, dorsal aortae, and head vasculature in the mouse embryo
Autor: C. Collart, A. Ciccarelli, K. Ivanovitch, I. Rosewell, S. Kumar, G. Kelly, A. Edwards, J. C. Smith
Additional file 13. Mounting an embryo for live imaging with the light sheet microscope The MuVi SPIM light sheet microscope stage holds a glass capillary; a piece of transparent FEP tube (that does not optically interfere with imaging) slides over t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10612b06ae5d2372937ea0c43a8a0a97
Zobrazit plný text záznamu
6
Personal observations on COVID-19 and the conduct and application of biomedical science
Autor: David W. Goodhew, J. C. Smith
Publikováno v: Interface Focus
We begin by describing our observations of the ways in which the conduct of research has changed during the COVID-19 pandemic and go on to comment on the quality of the scientific advice that is provided to UK citizens, and especially to schools. Res
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c66d56846301ae293101f52d8da32d0
Zobrazit plný text záznamu
8
Physiological responses of saplings of rainforest timber species differing in successional group to light regimes and nitrogen
Autor: Nanajappa Ashwath, David J Reid, Nick J. C. Smith, Din Muhammad Zahid, David J. Midmore
Publikováno v: Journal of Sustainable Forestry. 37:574-591
Saplings of 19 valuable rain forest timber species representative of three successional status groups (early secondary, late secondary and climax) were grown in a polyhouse to examine their respons...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7fb365fb1eed1f567f638e8f121ff469
https://doi.org/10.1080/10549811.2018.1447489
Zobrazit plný text záznamu
9
Akademický článek
Defining synphenotype groups in Xenopus tropicalis by use of antisense morpholino oligonucleotides.
Autor: Amer Ahmed Rana, Clara Collart, Michael J Gilchrist, J C Smith
Publikováno v: PLoS Genetics, Vol 2, Iss 11, p e193 (2006)
To identify novel genes involved in early development, and as proof-of-principle of a large-scale reverse genetics approach in a vertebrate embryo, we have carried out an antisense morpholino oligonucleotide (MO) screen in Xenopus tropicalis, in the
Externí odkaz: https://doaj.org/article/b211f8c8eb344d418db5bf39ed0b1e57
Zobrazit plný text záznamu
10
Size and Shape of (11351) Leucus from Five Occultations
Autor: John Keller, Dale R. Stanbridge, Jerry E. Bardecker, Christopher B. Lundgren, Beatrice E. A. Mueller, Michael P. von Schalscha, Marc W. Buie, Joan B. Dunham, Alex D. Rolfsmeier, Roxanne L. Kamin, Rima M. Givot, Joshua A. Kammer, Jack Lee Jewell, Bryan Hill, Yamir Hernandez, William H. Hanna, Ted E. Blank, Kai Getrost, Brian A. Keeney, Andrew E. McCandless, Michael Collins, Lawrence H. Wasserman, Timothy J Stoffel, Franck Marchis, Ryder Strauss, Aart M. Olsen, Joseph I. Samaniego, John R. Spencer, Julien Salmon, Alessondra Springmann, Cecilia W. S. Leung, James G. Rigby, Daniel O’Conner Peluso, T. Gialluca Megan, Robert L. Marcialis, Robert Weryk, John G. Moore, David A. Kenyon, Kelly E. Miller, John A. Eaccarino, Anne J. Verbiscer, Qicheng Zhang, P. C. Hinton, Hugh M. Davidson, Timothy R. Holt, J. N. Kidd, Scott R. Kester, John Noonan, Michael E. Brown, Catherine B. Olkin, Maria L. Garcia, Michael F. Skrutskie, R. P. Sawyer, Tiffany J. Finley, Holly Werts, Delsie Joy McCrystal, Tod R. Lauer, Alexander R. Patton, Zoey R. Lorusso, David W. Dunham, Gregory J. Kayl, Peter Tamblyn, David Gupton, Lindsay Fuller, Tony George, Harold F. Levison, Theodore Kareta, P. D. Maley, Rodrigo Leiva, Carl Hergenrother, Simon B. Porter, Robert R. Howell, Rose J. C. Smith, Lilah B Brown, David M. Schulz, Bryan Tobias, L. O. Magana, A. M. McGraw
Publikováno v: The Planetary Science Journal. 2:202
We present observations of five stellar occultations for (11351) Leucus and reports from two efforts on (21900) Orus. Both objects are prime mission candidate targets for the Lucy Discovery mission. Combined results for Leucus indicate a very dark su
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dedf1abb3887cbb3e63aaa3021b040f2
https://doi.org/10.3847/psj/ac1f9b
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje