Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Emily Coelho"'
Autor:
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow
Publikováno v:
eLife, Vol 9 (2020)
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variab
Externí odkaz:
https://doaj.org/article/b15615d75fd24af79e4e3c0481b7aa57
Autor:
Stephen, Thomas, Matthew, Katz, Anne-Marie, Slowther, Emily, Coelho, Gary, Mallinson, Stephen, Field
Publikováno v:
Transfusion medicine (Oxford, England)REFERENCES. 32(1)
Following recognition that blood, blood components, tissues and organs donated by infected donors could transmit infectious prions causing variant Creutzfeldt-Jakob Disease (vCJD), several risk reduction measures were introduced in the UK. The Adviso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d010083a6fe5688e222b2973d0fb4bb
https://pubmed.ncbi.nlm.nih.gov/34873757
https://pubmed.ncbi.nlm.nih.gov/34873757
Autor:
Lawrence M. Nelson, Mika Moriwaki, Corrine K. Welt, Elaine R. Mardis, Clement Y. Chow, Amber R. Cooper, Elaine Taylor, Bushra Gorsi, Aleksander Rajkovic, Marvin B Moore, Philippe Touraine, Claire Lu, Edgar Javier Hernandez, Mark Yandell, Emily Coelho, Amanda Walker
Publikováno v:
J Clin Endocrinol Metab
Context A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI). Objective We hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI. Design The study wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c11d480bf5bad3c9aae98266aed941b
https://doi.org/10.1101/2021.06.02.21258048
https://doi.org/10.1101/2021.06.02.21258048
Autor:
Kevin A. Hope, Cathleen M. Lutz, Aylin R. Rodan, Dana M Talsness, Clement Y. Chow, Gaelle Mercenne, Raghavendran Partha, John M. Pleinis, Emily Coelho, Aamir Zuberi, Nathan L. Clark, Katie G Owings
Publikováno v:
eLife, Vol 9 (2020)
eLife
eLife
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9961ead57ccfe6d0cbfc2c51524c39e9
https://elifesciences.org/articles/57831
https://elifesciences.org/articles/57831
Autor:
Kevin A. Hope, Aamir Zuberi, Aylin R. Rodan, Raghavendran Partha, Katie G Owings, Dana M Talsness, Emily Coelho, John M. Pleinis, Gaelle Mercenne, Clement Y. Chow, Nathan L. Clark, Cathleen M. Lutz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc28d4119d21c2320509b791be89a5d8
https://doi.org/10.7554/elife.57831.sa2
https://doi.org/10.7554/elife.57831.sa2
Autor:
Aylin R. Rodan, Raghavendran Partha, Katie G Owings, Emily Coelho, Nathan L. Clark, Cathleen M. Lutz, Aamir Zuberi, Clement Y. Chow, Gaelle Mercenne, Dana M Talsness, John M. Pleinis
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in theNGLY1gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece188007ab0c5db7856b4541320e3c9