Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Lisa Marie Ballard"'
Autor:
Hazel Inskip, Jenny Child, Christopher D. Byrne, Angela Fenwick, Deborah J G Mackay, Elizabeth Jenkinson, I. Karen Temple, Lisa Marie Ballard, Emma Wakeling, Oluwakemi Lokulo-Sodipe, Justin H Davies
Publikováno v:
Archives of Disease in Childhood. 106:1195-1201
ObjectiveThe psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by growth failure and short stature in adulthood, has been explored in adults; however, there are no accounts of contemporary lived experience in adolesc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8f8515e9f1fba6bed5525d2e557389
https://doi.org/10.1136/archdischild-2020-321376
https://doi.org/10.1136/archdischild-2020-321376
Publikováno v:
Eur J Hum Genet
Ballard, L M, Horton, R H, Dheensa, S, Fenwick, A & Lucassen, A M 2020, ' Exploring broad consent in the context of the 100,000 Genomes Project : a mixed methods study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0570-7
Ballard, L M, Horton, R H, Dheensa, S, Fenwick, A & Lucassen, A M 2020, ' Exploring broad consent in the context of the 100,000 Genomes Project : a mixed methods study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0570-7
The 100,000 Genomes Project (100kGP)-a hybrid clinical-research initiative-was set up to analyse whole-genome sequences (WGS) from patients living with a rare disease or cancer. The project positioned participant consent as being of central importanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a179d7f2dd9dc0127b482c4bb583b97
https://doi.org/10.1038/s41431-019-0570-7
https://doi.org/10.1038/s41431-019-0570-7
Publikováno v:
Eur J Hum Genet
Technological advances have seen the offer of genome sequencing becoming part of mainstream medical practice. Research has elicited patient and health professional views on the ethical issues genome sequencing raises, however, we know little about th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c375f0dbebf3a516184d709e1664a5
https://doi.org/10.1038/s41431-019-0504-4
https://doi.org/10.1038/s41431-019-0504-4
Publikováno v:
BMJ Open, Vol 11, Iss Suppl 1 (2021)
Background In areas of medicine such as genomics, understanding the experiences of an individual patient is insufficient because they are likely to have family members who may be directly affected by the outcome of a genomic test. Work in this field
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75f0462cc57065b43a83f8748a5dc8ad
https://doaj.org/article/e12f911446814d8cb3f2bd616945ba16
https://doaj.org/article/e12f911446814d8cb3f2bd616945ba16
Autor:
Emma Wakeling, Jenny Child, Deborah J G Mackay, Miho Ishida, Christopher D. Byrne, Justin H Davies, I. Karen Temple, Oluwakemi Lokulo-Sodipe, Hazel Inskip, Gudrun E. Moore, Angela Fenwick, Lisa Marie Ballard
Publikováno v:
Journal of Medical Genetics
BackgroundSilver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fcf40152ba1c5a1d9381d94b71adf0
https://eprints.soton.ac.uk/437350/
https://eprints.soton.ac.uk/437350/
Autor:
Adriane Chapman, Mark J. Weal, Lisa Marie Ballard, Anneke Lucassen, Kate Lyle, George Konstantinidis, Faranak Hardcastle
Publikováno v:
WebSci (Companion)
We are moving towards a world in which data have a life beyond the individual; where the value and potential of data are ever-changing as technological developments bring new possibilities. This immortality of data raises new ethical and societal iss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd9c696678991174c6078889719e291f
https://doi.org/10.1145/3394332.3402898
https://doi.org/10.1145/3394332.3402898
Autor:
Mark J. Weal, Anneke Lucassen, George Konstantinidis, Lisa Marie Ballard, Ahmed Alzubaidi, Adriane Chapman
Publikováno v:
Algorithms
Volume 13
Issue 4
Algorithms, Vol 13, Iss 87, p 87 (2020)
Volume 13
Issue 4
Algorithms, Vol 13, Iss 87, p 87 (2020)
Data processing agreements in health data management are laid out by organisations in monolithic &ldquo
Terms and Conditions&rdquo
documents written in natural legal language. These top-down policies usually protect the interest of the serv
Terms and Conditions&rdquo
documents written in natural legal language. These top-down policies usually protect the interest of the serv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf78eef97ffebc88757a4a86bb8c6f5
Autor:
I. Karen Temple, Deborah J G Mackay, Lisa Marie Ballard, Jenny Child, Angela Fenwick, Emma Wakeling, Justin H Davies, Hazel Inskip, Christopher D. Byrne, Elizabeth Jenkinson, Oluwakemi Lokulo-Sodipe
Publikováno v:
Archives of Disease in Childhood. 104:76-82
ObjectiveThere is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by slow growth in utero leading to short stature in adulthood. Such information could aid families in making difficult tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60d87e0adb77128dce38c8df487640f
https://doi.org/10.1136/archdischild-2018-314952
https://doi.org/10.1136/archdischild-2018-314952
Russell-Silver syndrome (RSS) is a rare genetic condition that restricts growth and in many cases, causes asymmetry. There is little research exploring how this appearance-altering, genetic condition affects people's psychosocial functioning. Lisa Ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597d40b27d0178e67a8b172463271ae6
https://eprints.soton.ac.uk/400838/
https://eprints.soton.ac.uk/400838/