Zobrazeno 1 - 4
of 4
pro vyhledávání: '"George Burghel"'
Publikováno v:
Archives of Medical Science, Vol 19, Iss 2, Pp 523-527 (2023)
Introduction This study aimed to define and update the prevalence of β-pathogenic thalassemia variants in Jordan. Material and methods A total of 158 patients with suspected β-thalassemia minor were examined using (CBC and Hb-electrophoresis), and
Externí odkaz:
https://doaj.org/article/2f41dda4944f47c582027b9066d36b6b
Publikováno v:
Evans, D G, Burghel, G & Smith, M J 2023, ' Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108960
NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in theNF2gene, which are most commo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5603819ca5b21c079865f9d9b9391ab
https://research.manchester.ac.uk/en/publications/5097f0a3-2f8d-488f-a397-81a2494a7ace
https://research.manchester.ac.uk/en/publications/5097f0a3-2f8d-488f-a397-81a2494a7ace
Autor:
Rebecca Lee, Dominic G. Rothwell, Richard Jackson, Nigel Smith, Stephen Q Wong, Noel Kelso, George Burghel, Chelsee Hewitt, Harry Clarke, Jackie Mitchell, Kate Jones, Andrew Muinonen-Martin, Samra Turajlic, Philippa Gail Corrie, Richard Marais, Mark R. Middleton, Sarah-Jane Dawson, Shahneen Sandhu, Caroline Dive, Paul Lorigan
Publikováno v:
Journal of Clinical Oncology. 40:TPS9603-TPS9603
TPS9603 Background: Circulating tumor DNA (ctDNA; the tumor derived fraction of circulating free DNA in the blood) is a well recognized, minimally-invasive biomarker of tumor burden/progression in many cancers. We have previously shown in retrospecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df34629ba9dbe7ff04e672b6fbb15673
https://doi.org/10.1200/jco.2022.40.16_suppl.tps9603
https://doi.org/10.1200/jco.2022.40.16_suppl.tps9603
Akademický článek
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