Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cristel Chapel-Crespo"'
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 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