Zobrazeno 1 - 6
of 6
pro vyhledávání: '"NIHR BioResource – Rare Disease"'
Autor:
Albuquerque, Adriana S, Maimaris, Jesmeen, McKenna, Alexander J, Lambourne, Jonathan, Moreira, Fernando, Workman, Sarita, Megy, Karyn, Simeoni, Ilenia, Lango Allen, Hana, NIHR BioResource-Rare Disease Consortium, Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Boardman, Barbara
Publikováno v:
Clinical & Experimental Immunology; May2023, Vol. 212 Issue 2, p166-169, 4p
Autor:
Courtney E French, Isabelle Delon, Alba Sanchis-Juan, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco, Helen Firth, NIHR BioResource – Rare Disease, Next Generation Children Project, David H. Rowitch, F. Lucy Raymond
Publikováno v:
SSRN Electronic Journal.
Background: Each year 95,000 neonates are admitted to intensive care units (ICU) in the UK. With growing evidence that Mendelian diseases present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in IC
Autor:
French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy, NIHR BioResource—Rare Disease, Next Generation Children Project
Publikováno v:
Intensive Care Medicine; May2019, Vol. 45 Issue 5, p627-636, 10p, 1 Diagram, 3 Charts, 1 Graph
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Abstract Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean
Externí odkaz:
https://doaj.org/article/925eca9b0f364764afe1780662261112
Autor:
Recchia G; Winton Centre for Risk and Evidence Communication, University of Cambridge, Cambridge, UK. glr29@cam.ac.uk., Chiappi A; Institute of Continuing Education, University of Cambridge, Cambridge, UK., Chandratillake G; Institute of Continuing Education, University of Cambridge, Cambridge, UK.; East of England NHS Genomic Medicine Centre, London, UK., Raymond L; East of England NHS Genomic Medicine Centre, London, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK.; NIHR Bioresource-Rare Disease, London, UK., Freeman ALJ; Winton Centre for Risk and Evidence Communication, University of Cambridge, Cambridge, UK.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Feb; Vol. 22 (2), pp. 353-361. Date of Electronic Publication: 2019 Sep 11.
Autor:
Recchia G; Winton Centre for Risk and Evidence Communication, University of Cambridge, Cambridge, UK. glr29@cam.ac.uk., Chiappi A; Institute of Continuing Education, University of Cambridge, Cambridge, UK., Chandratillake G; Institute of Continuing Education, University of Cambridge, Cambridge, UK.; East of England NHS Genomic Medicine Centre, London, UK., Raymond L; East of England NHS Genomic Medicine Centre, London, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK.; NIHR Bioresource-Rare Disease, London, UK., Freeman ALJ; Winton Centre for Risk and Evidence Communication, University of Cambridge, Cambridge, UK.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jan; Vol. 22 (1), pp. 240-241.