Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Michelin Janvier"'
Autor:
Anuj Jayakar, Parul Jayakar, Jun Sasaki, Jorge R Galvez-Silva, Anthony J. Febres-Aldana², Meredith S. Wright, Christopher A. Febres-Aldana, Michelin Janvier, Liset Pelaez, Magaly Diaz-Barbosa, Daria Salyakina, Ossama M. Maher, Bala R Totapally
Publikováno v:
Mol Syndromol
The generalized form of UDP-galactose-4′-epimerase (GALE) deficiency causes hypotonia, failure to thrive, cataracts, and liver failure. Individuals with non-generalized forms may remain asymptomatic with uncertain long-term outcomes. We report a 2-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6224e90b68ce6291a52c5c1c87677e8c
https://doi.org/10.1159/000511343
https://doi.org/10.1159/000511343
Autor:
Vakaramoko Diaby, Aram Babcock, Yushi Huang, Richard K. Moussa, Paula S. Espinal, Michelin Janvier, Diana Soler, Apeksha Gupta, Parul Jayakar, Magaly Diaz-Barbosa, Balagangadhar Totapally, Jun Sasaki, Anuj Jayakar, Daria Salyakina
Publikováno v:
The pharmacogenomics journal. 22(4)
There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of unknown c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc579a98ccdf279b511ffb432195e9a
https://pubmed.ncbi.nlm.nih.gov/35436997
https://pubmed.ncbi.nlm.nih.gov/35436997
Autor:
Cristina M Andrade-Feraud, Arlet M. Acanda de la Rocha, Ileana Sotto, Haneen Abdella, Maggie Fader, Daria Salyakina, Michelin Janvier, Tomás R. Guilarte, Vanessa Berrios, Mathew Bittle, Ziad Khatib, Ebony R Coats, Diana J. Azzam, Jennifer McCafferty-Fernandez, Paula S Espinal, Rojesh Shakya, Cima Saghira
Publikováno v:
JCO Precision Oncology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bac844473b559c71cb9a80bb4ed3b0
http://europepmc.org/articles/PMC8563073
http://europepmc.org/articles/PMC8563073
Autor:
Nanda Ramchandar, Daria Salyakina, Jennifer Foley, Christina Clarke, Toni Schwarz, Heng Xie, David Dimmock, Rita Stinnett, Benjamin Briggs, Nicole G. Coufal, Stephanie Osborne, Claudia Enriquez, Antonio Arrieta, Michelin Janvier, Lauge Farnaes, Anna S. Warden, Prithvi Sendi, Robert Schlaberg, Bryce Waldeman, Balagangadhar R. Totapally
Publikováno v:
Open forum infectious diseases, vol 8, iss 6
Open Forum Infectious Diseases
Open Forum Infectious Diseases
Background Pediatric central nervous system (CNS) infections are potentially life-threatening and may incur significant morbidity. Identifying a pathogen is important, both in terms of guiding therapeutic management and in characterizing prognosis. U
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c897aa37379de29121ad089f42030a36
https://escholarship.org/uc/item/54n897tj
https://escholarship.org/uc/item/54n897tj
Autor:
Jennifer Foley, Lauge Farnaes, Michelin Janvier, Claudia Enriquez, Balagangadhar R. Totapally, Nanda Ramchandar, David Dimmock, Daria Salyakina, Prithvi Sendi, Antonio Arrieta, Stephanie Osborne
Publikováno v:
Open Forum Infectious Diseases
Background Pediatric central nervous system (CNS) infections are potentially life-threatening and may incur significant morbidity. Identifying a pathogen is important, both in terms of guiding therapeutic management, but also in characterizing progno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e7657091acffafb49f1fe6bff222cd
https://doi.org/10.1093/ofid/ofaa439.537
https://doi.org/10.1093/ofid/ofaa439.537