Zobrazeno 1 - 10
of 233
pro vyhledávání: '"Stephanie Allen"'
Autor:
Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Rhiannon Mellis, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, Louise Wilson
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionPrenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite
Externí odkaz:
https://doaj.org/article/1a67f11223b94bd2a89072f49c95ec47
Autor:
Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, Melissa Hill
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionIn October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. Th
Externí odkaz:
https://doaj.org/article/6dc8f4f638a84583ae1fa43934c939d4
Autor:
Ben Myers, Francesco Catrambone, Stephanie Allen, Phil J. Hill, Katalin Kovacs, Frankie J. Rawson
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Bacterial pilin nanowires are protein complexes, suggested to possess electroactive capabilities forming part of the cells’ bioenergetic programming. Their role is thought to be linked to facilitating electron transfer between cells and th
Externí odkaz:
https://doaj.org/article/5a440aad2324459ab0bc58433bb12a27
Autor:
Stephanie Allen, Bhavika Patel, Brenna Dennison, Jacob Stapleton, Roni Archuleta, Mary Lou Rath, Sameer Talwalkar
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Externí odkaz:
https://doaj.org/article/c3879901481b49f69dc78519729cd9b6
Autor:
Stephanie Allen, Bhavika Patel, Brenna Dennison, Jacob Stapleton, Roni Archuleta, Mary Lou Rath, Sameer Talwalkar
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Externí odkaz:
https://doaj.org/article/77beea72d4524a15be13eece8d58415a
Publikováno v:
Interdisciplinary Neurosurgery, Vol 33, Iss , Pp 101776- (2023)
Background: Ophthalmic segment aneurysms that divide the optic nerve are exceedingly rare. We present a unique case of asymptomatic optic nerve splitting secondary into internal carotid artery ophthalmic segment aneurysm that was successfully treated
Externí odkaz:
https://doaj.org/article/5fe8f7919e374e318625931fd482a4e4
Autor:
Marah Maayah, Scott Grubman, Stephanie Allen, Zachary Ye, Dae Yong Park, Evangelia Vemmou, Ilhan Gokhan, Wendy W. Sun, Stephen Possick, Jennifer M. Kwan, Parul U. Gandhi, Jiun-Ruey Hu
Publikováno v:
Diagnostics, Vol 14, Iss 5, p 503 (2024)
Cardiac troponin (Tn) plays a central role in the evaluation of patients with angina presenting with acute coronary syndrome. The advent of high-sensitivity assays has improved the analytic sensitivity and precision of serum Tn measurement, but this
Externí odkaz:
https://doaj.org/article/09243bee8ca943e09975ba8180808f12
Autor:
Malgorzata Drozniewska, Mark D. Kilby, Julie Vogt, Fiona Togneri, Elizabeth Quinlan‐Jones, Lisa Reali, Stephanie Allen, Dominic McMullan
Publikováno v:
Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
Abstract Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatal
Externí odkaz:
https://doaj.org/article/4db604e4442b4ed18509dc6bb8643c52
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 9, Iss Suppl 2 (2021)
Externí odkaz:
https://doaj.org/article/5dffb14cb87d4578b9db54a37a502016
Autor:
Giuseppe Uras, Xinuo Li, Alessia Manca, Antonella Pantaleo, Marco Bo, Jinyi Xu, Stephanie Allen, Zheying Zhu
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 14794 (2022)
Alzheimer’s disease (AD) is characterized by an initial accumulation of amyloid plaques and neurofibrillary tangles, along with the depletion of cholinergic markers. The currently available therapies for AD do not present any disease-modifying effe
Externí odkaz:
https://doaj.org/article/fd3fd6f14e44467d91e3159a9166d6c1