Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Stephanie Dallaire"'
Autor:
Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 4, p 39 (2019)
Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA). We have developed a four-plex, real-time PCR assay to screen for Severe Combined I
Externí odkaz:
https://doaj.org/article/00a781cab21b4336b210da45be07cb8d
Publikováno v:
Genetics in Medicine. 24:S316
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60aac4062250d8d96827afd006fb8d8d
https://doi.org/10.1016/j.gim.2022.01.530
https://doi.org/10.1016/j.gim.2022.01.530
Autor:
Eleanore Dougherty, Macy Veling, Kristin McCunn, Jessica Ravenscroft, Stephanie Dallaire, Janine Kennedy, Zhili Lin, Yanhong Tong
Publikováno v:
Genetics in Medicine. 24:S310
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec27b6cc65fd7e146f9c4899bc73ae73
https://doi.org/10.1016/j.gim.2022.01.519
https://doi.org/10.1016/j.gim.2022.01.519
Autor:
Ian Jarvis, Ephrem Chin, Adam Rosendorff, Lora Bean, Stephanie Dallaire, John Best, Stephanie Wilbraham, Sean Romigh, P.J. Borandi, Zeqiang Ma, LeeAnn Dennewitz, Max Habibi, Miles Burrows, Madhuri Hegde
Publikováno v:
Genetics in Medicine. 24:S312
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd16d72641b1c80e6ac53fc0fdccf319
https://doi.org/10.1016/j.gim.2022.01.522
https://doi.org/10.1016/j.gim.2022.01.522
Autor:
Macy Veling, Stephanie Dallaire, Yanhong Tong, Galina Filippov, Eleanore Dougherty, Peishan Xie, Michael Miller
Publikováno v:
Molecular Genetics and Metabolism. 132:S187-S188
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dd9320045caff1ea502f3de9a35a3c8
https://doi.org/10.1016/s1096-7192(21)00379-6
https://doi.org/10.1016/s1096-7192(21)00379-6
Autor:
Markku Jaakkola, Katja Vaahtera, Marie Bækvad-Hansen, Daniel Schoener, Anne Timonen, Cristina Gutierrez-mateo, Galina Filippov, David M. Hougaard, Rongcong Wu, Dea Adamsen, Jonas Bybjerg-Grauholm, David Goldfarb, Stephanie Dallaire
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 4, p 39 (2019)
International Journal of Neonatal Screening
Volume 5
Issue 4
International Journal of Neonatal Screening
Volume 5
Issue 4
Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA). We have developed a four-plex, real-time PCR assay to screen for Severe Combined I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e4ac0260af878cf90762edb0e44089
https://www.mdpi.com/2409-515X/5/4/39
https://www.mdpi.com/2409-515X/5/4/39
Autor:
Mary C. Machado, Anubhav Tripathi, Gina V. Vimbela, Stephanie Dallaire, Rongcong Wu, Michael Nilsson
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e1d06805cf50c733078cf97b5e9497a
https://doi.org/10.1096/fasebj.2019.33.1_supplement.636.8
https://doi.org/10.1096/fasebj.2019.33.1_supplement.636.8
Autor:
Andrea Behlmann, Ian Jarvis, Lora J. H. Bean, Zeqiang Ma, PJ Borandi, Nam Le, Bruno Ping, Jan Gurr, Evangeline Voultsis, Dayle Blencowe, Stephanie Dallaire, Eprem Chin, Laura Schmitt, Sean Romigh, Madhuri Hegde
Publikováno v:
Molecular Genetics and Metabolism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21a8c13dd9a20c985f87ed3a7092388
https://doi.org/10.1016/s1096-7192(21)00514-x
https://doi.org/10.1016/s1096-7192(21)00514-x
Autor:
Anubhav Tripathi, Mary C. Machado, Rongcong Wu, Stephanie Dallaire, Michael Nilsson, Gina V. Vimbela
Publikováno v:
Electrophoresis. 40(14)
Large-scale genetic screening of neonatal dried blood spots for episomal DNA has a great potential to lower patient mortality and morbidity through early diagnosis of primary immunodeficiencies. However, DNA extraction from the surface of dried blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8282fd0774a9e24a43f34ebfcd7e9a97
https://pubmed.ncbi.nlm.nih.gov/31095765
https://pubmed.ncbi.nlm.nih.gov/31095765
Autor:
David Altshuler, George H. Perry, Michael C. Zody, Mark J. Daly, Pardis C. Sabeti, Jeffrey C Barrett, Charles Lee, Stephanie Dallaire, Tracy N. Hadnott, Stacey Gabriel, Steven A. McCarroll
Publikováno v:
Nature Genetics. 38:86-92
The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4739209cd89f09263c154087101b9d72
https://doi.org/10.1038/ng1696
https://doi.org/10.1038/ng1696