Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Samantha Edwards"'
Publikováno v:
Journal of Psychosomatic Obstetrics and Gynecology, Vol 39, Iss 1, Pp 11-18 (2018)
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date di
Externí odkaz:
https://doaj.org/article/0de5eb7b7ead4de99d3a31fc1302a41f
Autor:
Royston Ong, Samantha Edwards, Denise Howting, Benjamin Kamien, Karen Harrop, Gianina Ravenscroft, Mark Davis, Michael Fietz, John Beilby, Nigel Laing
Publikováno v:
BMJ Open, Vol 9, Iss 6 (2019)
IntroductionPreconception carrier screening (PCS) identifies couples at risk of having children with recessive genetic conditions. New technologies have enabled affordable sequencing for multiple disorders simultaneously, including identifying carrie
Externí odkaz:
https://doaj.org/article/896d65aa1a3944d7b095928b00743c61
Autor:
Sarah Righetti, Lisa Dive, Alison D. Archibald, Lucinda Freeman, Belinda McClaren, Anaita Kanga-Parabia, Martin B. Delatycki, Nigel G. Laing, Edwin P. Kirk, Ainsley J. Newson, Kristine Barlow-Stewart, Stephanie Best, Kirsten Boggs, Camron Ebzery, Samantha Edwards, Zoe Fehlberg, Lara Fitzgerald, Jane Halliday, Katrina Harrison, Jillian Kennedy, Janet Long, John Massie, Erin Tutty, Richard Allcock, Jade Caruana, Rachael Casella, Mark Davis, Tristan Hardy, Sarah Jelenich, Sebastian Lunke, Julie McGaughran, Gina Ravenscroft
Publikováno v:
Genetics in Medicine. 24:1158-1161
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce2f75e940f9d150668787071ed8a19
https://doi.org/10.1016/j.gim.2022.01.007
https://doi.org/10.1016/j.gim.2022.01.007
Autor:
Alison D, Archibald, Belinda J, McClaren, Jade, Caruana, Erin, Tutty, Emily A, King, Jane L, Halliday, Stephanie, Best, Anaita, Kanga-Parabia, Bruce H, Bennetts, Corrina C, Cliffe, Evanthia O, Madelli, Gladys, Ho, Jan, Liebelt, Janet C, Long, Jeffrey, Braithwaite, Jillian, Kennedy, John, Massie, Jon D, Emery, Julie, McGaughran, Justine E, Marum, Kirsten, Boggs, Kristine, Barlow-Stewart, Leslie, Burnett, Lisa, Dive, Lucinda, Freeman, Mark R, Davis, Martin J, Downes, Mathew, Wallis, Monica M, Ferrie, Nicholas, Pachter, Paul A, Scuffham, Rachael, Casella, Richard J N, Allcock, Royston, Ong, Samantha, Edwards, Sarah, Righetti, Sebastian, Lunke, Sharon, Lewis, Susan P, Walker, Tiffany F, Boughtwood, Tristan, Hardy, Ainsley J, Newson, Edwin P, Kirk, Nigel G, Laing, Martin B, Delatycki, The Mackenzie's Mission Study Team
Publikováno v:
Journal of personalized medicine. 12(11)
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5779fe815982544789a9a67b239cfc0
https://pubmed.ncbi.nlm.nih.gov/36579509
https://pubmed.ncbi.nlm.nih.gov/36579509
Publikováno v:
Journal of Clinical Gynecology and Obstetrics. 10:51-54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cd99c52fa2e9bfec2b3be811fa627c0
https://doi.org/10.14740/jcgo730
https://doi.org/10.14740/jcgo730
Publikováno v:
Diaspora, Indigenous, and Minority Education. 16:87-105
Euro-Western perspectives dominate visual communication design education in Australia. This paper examines how the “8 Aboriginal Ways of Learning” pedagogical framework transformed the learning and...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd976e601b676d3bdc39f6ab96507ba5
https://doi.org/10.1080/15595692.2021.1907331
https://doi.org/10.1080/15595692.2021.1907331
Autor:
Samantha Edwards-Vandenhoek
Publikováno v:
Visual Studies. 37:649-663
Socio-spatial politics characterise the city and the subcultures that reside within her. This paper is centred on the visual tensions and dialogues embedded in the graffiti which shape and transfor...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e7b996a42e8ef693901f4f97efedfb7
https://doi.org/10.1080/1472586x.2020.1869065
https://doi.org/10.1080/1472586x.2020.1869065
Autor:
Nigel G. Laing, Mark R. Davis, Samantha Edwards, Phillipa J. Lamont, Sarah J. Beecroft, Hayley Goullee, Gianina Ravenscroft
Publikováno v:
Molecular Diagnosis & Therapy. 24:641-652
The impact of high-throughput sequencing in genetic neuromuscular disorders cannot be overstated. The ability to rapidly and affordably sequence multiple genes simultaneously has enabled a second golden age of Mendelian disease gene discovery, with f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7f464535d21243d54ee219d794a0c82
https://doi.org/10.1007/s40291-020-00495-2
https://doi.org/10.1007/s40291-020-00495-2
Publikováno v:
The Southwest Respiratory and Critical Care Chronicles. 8:47-51
An 86-year-old male presented with severe hypoglycemia and encephalopathy. Hypoglycemia workup determined the cause to be endogenous insulin. A pancreatic mass increased clinical suspicion for insulinoma, a rare pancreatic neuroendocrine tumor. Surge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e42b21467d042cc96cae4cf78af7ce53
https://doi.org/10.12746/swrccc.v8i33.635
https://doi.org/10.12746/swrccc.v8i33.635
Autor:
Hannah Fairley, Ana Marcella Rivas, J. Drew Payne, Nathan Lloyd, Sharan Bijlani, Samantha Edwards
Publikováno v:
Baylor University Medical Center Proceedings. 33:1-4
The aim of this cross-sectional study was to estimate the frequency and prevalence of obesity and its association with diabetes mellitus, systemic hypertension, hyperlipidemia, coronary artery disease, myocardial infarction, and obstructive sleep apn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13dab122ae44ed4d4fac574bdfb2e4ec
https://doi.org/10.1080/08998280.2019.1668667
https://doi.org/10.1080/08998280.2019.1668667