Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Samantha Doyle"'
Autor:
John Allen, Zunera Zareen, Samantha Doyle, Laura Whitla, Zainab Afzal, Maria Stack, Orla Franklin, Andrew Green, Adam James, Timothy Ronan Leahy, Shoana Quinn, Basil Elnazir, John Russell, Sri Paran, Patrick Kiely, Edna Frances Roche, Ciara McDonnell, Louise Baker, Owen Hensey, Louise Gibson, Stephanie Kelly, Denise McDonald, Eleanor J. Molloy
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture or movement, causing activity limitation, due to a lesion in the developing brain. CP is an umbrella term for a heterogenous condition and is, therefore, descr
Externí odkaz:
https://doaj.org/article/3524829d07ee401ba481b48169e2afa4
Autor:
Samantha Doyle, James J. O'Byrne, Mandy Nesbitt, Daniel N. Murphy, Zaza Abidin, Niall Byrne, Gregory Pastores, Richard Kirk, Eileen P. Treacy
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
Abstract Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by
Externí odkaz:
https://doaj.org/article/25a4e3334f0a44beb0e1c0c5f4d2778d
Autor:
Emily K. Miller-Cushon, Samantha Doyle
Publikováno v:
JDS Communications. 4:46-50
Publikováno v:
Reilly, K, Doyle, S, Hamilton, S J, Kilby, M D & Mone, F 2022, ' Pitfalls of prenatal diagnosis associated with mosaicism ', The Obstetrician and Gynaecologist . https://doi.org/10.1111/tog.12850
Key content- Fetal placental mosaicism, of which confined placental mosaicism is a subtype, occurs in 2–3% of pregnancies.- Confined placental mosaicism may lead to a false positive result on non-invasive prenatal testing (NIPT) for common aneuploi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b011f989cd48105a732e30598914e2ca
https://pure.qub.ac.uk/en/publications/995a2462-2eae-41e6-8d15-9c0ca7569a49
https://pure.qub.ac.uk/en/publications/995a2462-2eae-41e6-8d15-9c0ca7569a49
Autor:
Stephanie Allen, Elizabeth Wall, James S. Castleman, Mark D. Kilby, Denise Williams, Samantha Doyle
Publikováno v:
Expert Review of Molecular Diagnostics. 21:465-474
Introduction: Prenatal exome sequencing (ES) allows parents the opportunity to obtain arapid molecular diagnosis of monogenic etiology when their fetus is found to have structural anomalies detecte...
Publikováno v:
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology. 42(6)
Publikováno v:
Animals; Volume 12; Issue 7; Pages: 821
Social housing for dairy calves has a range of benefits for social development, yet there is limited understanding of how social bonds form early in life. We characterized effects of early life social contact on the development of social preference f
Publikováno v:
Journal of dairy science. 105(10)
Although social contact between dairy calves has broad effects on their behavioral development, influences of calf social housing on human-animal relationships are less well understood, despite implications for longer-term calf management and welfare
Autor:
Gregory M. Pastores, Mandy Nesbitt, James J. O’Byrne, Niall Byrne, Zaza Abidin, Richard Kirk, Eileen P. Treacy, Samantha Doyle, Daniel N. Murphy
Publikováno v:
JIMD Reports
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by biochemic
Autor:
Tamás Marton, Hala Abu Subieh, Stephanie Allen, Mark D. Kilby, Asfa Ahmad, Susan Hamilton, Fionnuala Mone, Denise Williams, Samantha Doyle
Publikováno v:
Acta obstetricia et gynecologica ScandinavicaREFERENCES. 100(3)
Introduction Consanguineous unions occur when a couple are related outside marriage. It is a common practice amongst UK Pakistanis and is associated with adverse genetic and perinatal outcomes for affected offspring. The objectives of this study were