Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Carmen Buxo"'
Autor:
Elinette M. Albino, Polaris Gonzalez-Barrios, Paola Guisti-Rodriguez, Noelia De Sevilla-Saez, Karen G. Martinez, Carmen Buxo
Publikováno v:
Journal of Clinical and Translational Science, Vol 8, Pp 122-123 (2024)
OBJECTIVES/GOALS: Motivations and hesitations about participating in genetic research among those at risk of inherited conditions are unclear. We aim to understand perceptions, perspectives, and concerns of these individuals regarding genetic researc
Externí odkaz:
https://doaj.org/article/a6b1d2fa482348c3b0d3b406f295dc11
Autor:
Elinette M Albino, Karen Martinez, Simon Carlo, Cristel Chapel-Crespo, Antonio Ortiz, Alberto Santiago-Cornier, Frances Velez-Bartolomei, Carmen Buxo
Publikováno v:
Journal of Clinical and Translational Science, Vol 7, Pp 97-97 (2023)
OBJECTIVES/GOALS: Diagnostic odyssey is the time it can take to a patient for receiving a diagnosis. Diagnostic process in rare diseases can be complex due to the heterogeneity of symptoms and lack of access to care. We aim to evaluate the associatio
Externí odkaz:
https://doaj.org/article/609747c9eb4f457c85a677fcab1818b9
Publikováno v:
Journal of Clinical and Translational Science, Vol 7, Pp 138-138 (2023)
OBJECTIVES/GOALS: Evaluate the impact of COVID-19 on oral clefts services including surgical and dental treatments in Puerto Rico. METHODS/STUDY POPULATION: This Observational retrospective cohort study will consider patients 0-21 y/o with CL/P that
Externí odkaz:
https://doaj.org/article/8b1c6bf181ce405b933f43ba0cd4995f
Publikováno v:
Journal of Clinical and Translational Science, Vol 6, Pp 67-67 (2022)
OBJECTIVES/GOALS: Assess the diagnostic yield and test utilization of WES in patients having complex traits. We aim to evaluate the use of the first genetic approach for the identification of primary variants that contribute to neurogenetic disease e
Externí odkaz:
https://doaj.org/article/b6964ad0159f48d09e245f7b5faabd2c
Publikováno v:
Journal of Clinical and Translational Science, Vol 5, Pp 106-106 (2021)
ABSTRACT IMPACT: Alterations in mitochondrial metabolism affect any tissue, especially those with the highest demand for energy. As the symptoms and clinical manifestations are heterogenous, disease diagnosis is challenging. The implementation of gen
Externí odkaz:
https://doaj.org/article/c6f18a3bf2f242a286a03557009c588c
Autor:
Juan Rovira-Gonzalez, Frances Fuster-Astor, Karen Martinez-Gonzalez, Sona Rivas-Tumanyan, Evangelia Morou-Bermudez, Gabriela Ortiz-Bernard, Carmen Buxo-Martinez
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 60:S194-S195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5a3f899c012b5f6d2c66a9e47afce8d
https://doi.org/10.1016/j.jaac.2021.09.193
https://doi.org/10.1016/j.jaac.2021.09.193
Publikováno v:
Journal of Clinical and Translational Science. 5:106-106
IMPACT: Alterations in mitochondrial metabolism affect any tissue, especially those with the highest demand for energy. As the symptoms and clinical manifestations are heterogenous, disease diagnosis is challenging. The implementation of genetic-firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6af1990418840196e2c5f1618fe7a133
https://doi.org/10.1017/cts.2021.671
https://doi.org/10.1017/cts.2021.671
Autor:
Nayra del Carmen Rodriguez-Soto, Carmen Buxo Martinez, Karen G. Martínez, Evangelia Morou Bermudez, Maribel Campos Rivera, Myrellis Muniz Marquez, Sona Rivas-Tumanyan, Angelica Jimenez-Saldana, Stephanie Ortiz Domenech
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 58:S262-S263
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27adc2cc04cfa4ead0ab2f6e6fbf06a6
https://doi.org/10.1016/j.jaac.2019.08.367
https://doi.org/10.1016/j.jaac.2019.08.367
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