Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Rachel Harrison"'
Autor:
Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné
Publikováno v:
American Journal of Medical Genetics Part A. 185:3446-3458
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical
Publikováno v:
Journal of Applied Research in Intellectual Disabilities. 34:973-992
Background: Despite the importance of social networks for health and wellbeing, relatively little is known about the ways in which adults with intellectual disabilities in the U.K. experience their social networks. Method: A systematic review was com
Children with osteogenesis imperfecta (OI) are commonly treated with bisphosphonates. We investigated the skeletal response to mechanical stimulation in children with OI before and after bisphosphonate treatment. Twelve children with OI, naïve to bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f68a63a45535b7e5d0539916d0a42bf
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 45:2452-2455
Hemoptysis in pregnancy is rare and can be life-threatening. This case describes management of hemoptysis in pregnancy requiring veno-venous extracorporeal membrane oxygenation (VV-ECMO). The patient presented with massive hemoptysis in respiratory f
Autor:
Leslie G. Biesecker, William J. Rhead, Jennifer J. Johnston, Samantha A. Schrier Vergano, John M. Graham, Nancy Kramer, Bianca Russell, Benjamin M. Helm, Rachel Harrison, Amy Dobson, L. Kate Clarkson, Avi Z. Rosenberg, Catherine A. Brownstein, Angela Pickart, Wen-Hann Tan
Publikováno v:
American Journal of Medical Genetics Part A. 167:2122-2131
Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wri
Autor:
Abhijit Dixit, Sally A. Hulton, Nigel Smith, Chirag Patel, Rachel Harrison, Dominic J. McMullan, Lee Silcock, Mohnish Suri, Katherine Yates, Joanna Jarvis
Publikováno v:
American Journal of Medical Genetics Part A. :2317-2321
Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cogn
Publikováno v:
American Journal of Medical Genetics Part A. 164:2121-2123
Autor:
Alan Sprigg, Christine Hall, Rachel Harrison, Steve Chapman, Faisal Ahmed, Richard Eastell, Elizabeth Knowles, Michael J. Campbell, Claire Hill, Alan S. Rigby, Nick Bishop, Nick Shaw
Publikováno v:
Journal of Bone and Mineral Research. 25:32-40
Moderate to severe osteogenesis imperfecta is associated with multiple fractures in childhood. There are no published data regarding the effects of third-generation bisphosphonates in these children. This randomized study investigated which of three
Publikováno v:
Software Evolution and Feedback: Theory and Practice
This paper re-examines the SPE taxonomy of evolving software systems, first proposed in 1980 (Lehman). It builds on the concept that software evolution is related to generic theories of evolution. A refinement of SPE is proposed that has provided a m
Autor:
Rachel Harrison
Publikováno v:
Criminal Behaviour and Mental Health. 5:56-57