Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Samantha Connors"'
Autor:
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the d
Externí odkaz:
https://doaj.org/article/64436425aef44e6d84ebe13cff020fd4
Autor:
Ian Hayes, Sandra Fitzgerald, Cherie Blenkiron, Stephen P. Robertson, Timothy R. Morgan, Paula Shields, Rachel Stapleton, Ben Lawrence, Peter Tsai, Colina McKeown, Joanne Dixon, Cristin G. Print, Katherine Neas, David Markie, Kate Gibson, Samantha Connors, Patrick Yap
Publikováno v:
Journal of the Royal Society of New Zealand. 48:262-279
We report the results of a pilot project for clinical DNA sequencing in New Zealand. This project aimed to estimate the diagnostic yield of next generation sequencing in the New Zealand clinical en...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0eb3db446be8d21fdd4e8bba922aba61
https://doi.org/10.1080/03036758.2018.1464033
https://doi.org/10.1080/03036758.2018.1464033
Autor:
Stephen G. O'Brien, James Chang, Sara A. D. Vieira, Samantha Connors, Renaud Capdeville, Junia V. Melo, Nick Bown
Publikováno v:
Blood. 99(9)
We report the transient response of a patient with theETV6-ABL fusion gene to imatinib mesylate (STI571). A 38-year-old man was referred with an erroneous diagnosis of Philadelphia-positive chronic myeloid leukemia in blastic transformation for treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b044d62d1643d422b728cb7d0d7974a
https://pubmed.ncbi.nlm.nih.gov/11964320
https://pubmed.ncbi.nlm.nih.gov/11964320
Autor:
Anthony Todd, Stephen J. Bourke, J. E. Calvert, C.I. Baldwin, Samantha Connors, Beverley Stevens, A. Allen
Publikováno v:
International archives of allergy and immunology. 117(3)
Background: Pigeon intestinal mucin has been implicated as an important antigen pigeon fanciers' lung. This study investigated whether mucin is detectable in pigeon droppings and bloom, the likely antigenic sources in disease. Methods: Soluble extrac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026e018bbbe4a964bd0b59cb11558545
https://pubmed.ncbi.nlm.nih.gov/9831806
https://pubmed.ncbi.nlm.nih.gov/9831806