Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Simon, Carlo"'
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
Autor:
Simon, Carlo
Zugl.: Koblenz, Landau (Pfalz), Univ., Habil.-Schr., 2007
Externí odkaz:
http://d-nb.info/990141756/04
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
Autor:
Wilfredo De Jesus Rojas, Evangelia Morou-Bermudez, Valerie Wojna, Simon Carlo, Ricardo Mosquera
Publikováno v:
Journal of Clinical and Translational Science, Vol 5, Pp 104-104 (2021)
ABSTRACT IMPACT: The implementation of nasal nitric oxide (nNO) as a diagnostic tool to understand the phenotypic/genotypic profiles of Primary Ciliary Dyskinesia (PCD) in Puerto Rico (PR) will be translated in early disease diagnosis, avoidance of c
Externí odkaz:
https://doaj.org/article/ee32702bf6894075a471f80a66fddc4e
Publikováno v:
Cureus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a6b30447153af049878a90b3d998cf2
https://doi.org/10.7759/cureus.30172
https://doi.org/10.7759/cureus.30172
Autor:
Simon Carlo, Laura F Rodríguez-Fernández, Fabiola A Benítez Ríos, Norma J Arciniegas-Medina, Hector Martínez-González
Publikováno v:
Cureus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::200241e9448b36fed22340b50a33beac
https://doi.org/10.7759/cureus.23349
https://doi.org/10.7759/cureus.23349
Autor:
Olbrich, Sebastian, Simon, Carlo
Publikováno v:
Transforming Government: People, Process and Policy, 2007, Vol. 1, Issue 2, pp. 194-210.
Externí odkaz:
http://www.emeraldinsight.com/doi/10.1108/17506160710752002
Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
Autor:
Jose Pascual, Edwin Rodriguez, Cristal Hernandez-Hernandez, Simon Carlo, Frances Velez-Bartolomei, Alberto Santiago Cornier
Publikováno v:
AME Case Rep
We are presenting the case of a 6-year-old male patient with progeroid phenotype and severe developmental delay referred to Genetic clinic. Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c3e2df3d0da93986922df3d50aa160
https://europepmc.org/articles/PMC8572670/
https://europepmc.org/articles/PMC8572670/
Publikováno v:
Cureus
A microdeletion in the 15q13.3 locus is an exceedingly rare condition affecting the CHRNA7 gene. There have been 11 pediatric cases of this mutation reported worldwide. Clinical characteristics of the 15q13.3 microdeletion are rapid-onset obesity, hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869c77e6275087b612fb81de03919745
http://europepmc.org/articles/PMC8054939
http://europepmc.org/articles/PMC8054939