Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Leora Lee"'
Autor:
Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra
Publikováno v:
BMC Genomics, Vol 18, Iss 1, Pp 1-16 (2017)
Abstract Background Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing pot
Externí odkaz:
https://doaj.org/article/4e7ead77142848a49d2a6dee91a32ba4
Autor:
Ingrid Elisia, Hisae Nakamura, Vivian Lam, Elyse Hofs, Rachel Cederberg, Jessica Cait, Michael R Hughes, Leora Lee, William Jia, Hans H Adomat, Emma S Guns, Kelly M McNagny, Ismael Samudio, Gerald Krystal
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0152538 (2016)
Dimethyl sulfoxide (DMSO) is currently used as an alternative treatment for various inflammatory conditions as well as for cancer. Despite its widespread use, there is a paucity of data regarding its safety and efficacy as well as its mechanism of ac
Externí odkaz:
https://doaj.org/article/91c73280fe8c430c8a2ae7863e8eae20
Autor:
Grant Tran, Erica S Tsang, Farah R. Zahir, Chi Kin Wong, Heba Yasin, Leora Lee, Sylvie Langlois, William T. Gibson, Christine Tyson, Jan M. Friedman, Jenny Poon, Marco A. Marra, Robert Stowe
Publikováno v:
Journal of Human Genetics. 64:271-280
A decade ago, we described novel de novo submicroscopic deletions of chromosome 14q11.2 in three children with developmental delay, cognitive impairment, and similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge
Autor:
Diana Bekkaoui, Zafer Dallal Bashi, Sanjaya Gyawali, George G. Khachatourians, Cathy Coutu, Leora Lee, S. Roger Rimmer, Dwayne D. Hegedus, Jenny Poon
Publikováno v:
Canadian Journal of Microbiology. 62:836-850
Mitogen-activated protein kinases (MAPKs) play a central role in transferring signals and regulating gene expression in response to extracellular stimuli. An ortholog of the Saccharomyces cerevisiae cell wall integrity MAPK was identified in the phyt
Autor:
Sylvie Langlois, Jill Mwenifumbo, Barbara M. McGillivray, Leora Lee, Steven J.M. Jones, Karen Mungall, Madeline Couse, Nancy Makela, Farah R. Zahir, Linlea Armstrong, Marco A. Marra, Cornelius F. Boerkoel, Emilia L. Lim, Jan M. Friedman, Hye Jung E. Chun, Clara D.M. van Karnebeek
Publikováno v:
BMC genomics, 18(1):403. BioMed Central
BMC Genomics
BMC Genomics, Vol 18, Iss 1, Pp 1-16 (2017)
BMC Genomics
BMC Genomics, Vol 18, Iss 1, Pp 1-16 (2017)
Background Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae8fba3911f3ed610d6e208944eb4e6
https://pure.amc.nl/en/publications/comprehensive-whole-genome-sequence-analyses-yields-novel-genetic-and-structural-insights-for-intellectual-disability(5c145a20-1ac4-4073-8fa8-ef619be252d3).html
https://pure.amc.nl/en/publications/comprehensive-whole-genome-sequence-analyses-yields-novel-genetic-and-structural-insights-for-intellectual-disability(5c145a20-1ac4-4073-8fa8-ef619be252d3).html
Autor:
Ismael Samudio, Ingrid Elisia, Elyse Hofs, Jessica Cait, Leora Lee, Emma S. Tomlinson Guns, Gerald Krystal, Hisae Nakamura, Hans Adomat, Kelly M. McNagny, Vivian Lam, Rachel A. Cederberg, Michael R. Hughes, William Jia
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0152538 (2016)
PLoS ONE
PLoS ONE
Dimethyl sulfoxide (DMSO) is currently used as an alternative treatment for various inflammatory conditions as well as for cancer. Despite its widespread use, there is a paucity of data regarding its safety and efficacy as well as its mechanism of ac