Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Therese, Bradley"'
Autor:
Lynne J, Hocking, Claire, Andrews, Christine, Armstrong, Morad, Ansari, David, Baty, Jonathan, Berg, Therese, Bradley, Caroline, Clark, Austin, Diamond, Jill, Doherty, Anne, Lampe, Ruth, McGowan, David J, Moore, Dawn, O'Sullivan, Andrew, Purvis, Javier, Santoyo-Lopez, Paul, Westwood, Michael, Abbott, Nicola, Williams, Timothy J, Aitman, Margo, Whiteford
Publikováno v:
Hocking, L J, Andrews, C, Armstrong, C, Ansari, M, Baty, D, Berg, J, Bradley, T, Clark, C, Diamond, A, Doherty, J, Lampe, A, McGowan, R, Moore, D J, O'Sullivan, D, Purvis, A, Santoyo-Lopez, J, Westwood, P, Abbott, M, Williams, N & Aitman, T J & Miedzybrodzka, Z 2022, ' Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing ', European Journal of Human Genetics, vol. 31 . https://doi.org/10.1038/s41431-022-01226-3
NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999 individuals from 394 families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f09a3b01751706f954ef04300960a4c0
https://pubmed.ncbi.nlm.nih.gov/36474026
https://pubmed.ncbi.nlm.nih.gov/36474026
Autor:
Morag Attaie, Joachim Pohlenz, Pia Hermanns, Angela K Lucas-Herald, Sanjay Maroo, Malcolm Donaldson, Jeremy Jones, David Neumann, Therese Bradley
Publikováno v:
The Journal of pediatrics. 164(4)
Objective To determine the diagnostic and predictive value of ultrasound and radioisotope scans of the thyroid, alone and in combination, during a single visit after initial referral by the screening laboratory with thyroid-stimulating hormone (TSH)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314bd4fd10d4750fd2e1e7424179b11a
https://pubmed.ncbi.nlm.nih.gov/24412140
https://pubmed.ncbi.nlm.nih.gov/24412140
Autor:
Joachim Pohlenz, Angela K Lucas-Herald, Pia Hermanns, Therese Bradley, Malcolm Donaldson, Morag Attaie, Jeremy Jones, Elaine Thompson
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 26(5-6)
Hyperthyrotropinaemia [mildly elevated thyrotropin (TSH) with normal thyroxine (T4) levels] demands a full assessment, including clinical examination, thyroid imaging and, where indicated, molecular genetic investigations. A male infant, both of whos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e68217632f40e38211b7bc40982a81e
https://pubmed.ncbi.nlm.nih.gov/23412867
https://pubmed.ncbi.nlm.nih.gov/23412867