Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Adriana Noronha"'
Autor:
Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil, Eric Chavez, Jason Carmichael, Kaylee M. Ruiz, Christine Miller, Sarah Benke, Rosalie Perrot, Maryam Hockley, Kady Murphy, Aimiel Casillan, Lily Radanovich, Roger Deforest, Mark E. Nunes, Richard Sidlow, Yaron Einhorn, Jeremy Woods
Introduction Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient encounters. Methods Genetic variants from all genetic testing resulting to a large pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8a9d31c97a483ce7104ee438711291f
https://doi.org/10.21203/rs.3.rs-2913380/v1
https://doi.org/10.21203/rs.3.rs-2913380/v1
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
The diagnosis of rare Mendelian disorders usually relies upon the interpretation of prose and is complicated by a lack of objective, reproducible phenotypic data. To address this limitation, we developed a next generation phenotyping workflow to phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee3bee462e1b2546b3777068e8feeb64
https://pubmed.ncbi.nlm.nih.gov/36607994
https://pubmed.ncbi.nlm.nih.gov/36607994
Autor:
Adriana Noronha Brasil Lima
Publikováno v:
Scientific Magazine. 15:114-128
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acf4383286661612fd20f600eaf3f0b2
https://doi.org/10.29327/218457.15.143-8
https://doi.org/10.29327/218457.15.143-8
Autor:
Adriana Noronha Brasil Lima
Publikováno v:
Scientific Magazine. 15:6-23
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::370346ce1bf484c03d4cbb89056b26ee
https://doi.org/10.29327/218457.15.143-1
https://doi.org/10.29327/218457.15.143-1
Autor:
María Isabel Sánchez-Hernández, Luisa Carvalho, Conceiçao Rego, María Raquel Lucas, Adriana Noronha
Publikováno v:
Entrepreneurship in the Fourth Sector ISBN: 9783030683894
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abf2904a33edde475b8c46670bf78975
https://doi.org/10.1007/978-3-030-68390-0_1
https://doi.org/10.1007/978-3-030-68390-0_1
Autor:
María Isabel Sánchez-Hernández, Luísa Carvalho, Conceição Rego, Maria Raquel Lucas, Adriana Noronha
“The fourth sector” consists of for-benefit organizations that combine market-based approaches of the private sector with the social and environmental aims of the public and non-profit sectors. This book examines successful experiences around the
Autor:
María Isabel Sánchez-Hernández, Luísa Carvalho, Conceição Rego, Maria Raquel Lucas, Adriana Noronha
“The fourth sector” is a relatively new sector that consists of for-benefit organizations that combine market-based approaches of the private sector with the social and environmental aims of the public and non-profit sectors. This book examines t
Autor:
Jennifer M. Rutkowsky, Jacqueline N. Crawley, Dag H. Yasui, Michael C. Pride, Annie Vogel Ciernia, Trina A. Knotts, Adriana Noronha, Janine M. LaSalle, Alene Chang, Blythe Durbin-Johnson, John J Ramsey
Publikováno v:
Human molecular genetics, vol 27, iss 23
Mutations in the X-linked gene MECP2 cause the majority of Rett syndrome (RTT) cases. Two differentially spliced isoforms of exons 1 and 2 (MeCP2-e1 and MeCP2-e2) contribute to the diverse functions of MeCP2, but only mutations in exon 1, not exon 2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29ee1f27d4f64e562b3197da50a2660
Autor:
Alene Chang, Annie Vogel Ciernia, Blythe Durbin-Johnson, Jacqueline N. Crawley, Adriana Noronha, Janine M. LaSalle, Dag H. Yasui, Michael C. Pride
Publikováno v:
Human molecular genetics, vol 26, iss 10
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0406cdeac239074482a7dd3a5ad8902
https://escholarship.org/uc/item/7pf0g8gn
https://escholarship.org/uc/item/7pf0g8gn
Publikováno v:
WACV
In neuroscience, understanding animal behaviors is key to studying their memory patterns. Meanwhile, this is also the most time-consuming and difficult process because it relies heavily on humans to manually annotate the videos recording the animals.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c98fad7ad12fcb713634334019822e31
https://doi.org/10.1109/wacv.2017.147
https://doi.org/10.1109/wacv.2017.147