Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Amy Feldman"'
Publikováno v:
Case Reports in Hematology, Vol 2024 (2024)
We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in
Externí odkaz:
https://doaj.org/article/dd665e2880db408ca66474e9ecda766d
Autor:
Glass, Joshua, Weston, Julia, Lewanda, Amy Feldman, Majumdar, Suvankar, Piccaluga, Pier Paolo
Publikováno v:
Case Reports in Hematology; 7/2/2024, Vol. 2024, p1-4, 4p
Publikováno v:
In The Journal of Pediatrics October 2018 201:100-105
Autor:
Kappeler, Evelyn M., Farb, Amy Feldman
Publikováno v:
In Journal of Adolescent Health March 2014 54(3) Supplement:S3-S9
Publikováno v:
In Journal of Adolescent Health March 2014 54(3) Supplement:S15-S20
Publikováno v:
In Developmental Review March 2012 32(1):1-48
Autor:
Eyby Leon, Sean E. Hofherr, David Isum Ward, Jullianne Diaz, Bethany A. Buckley, Amy Feldman Lewanda, Margaret Faust Galegos
Publikováno v:
American Journal of Medical Genetics Part A. 176:551-559
Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in
Autor:
Farb, Amy Feldman1 amy.farb@hhs.gov, Margolis, Amy L.1
Publikováno v:
American Journal of Public Health. 2016 Supplement1, Vol. 106, pS9-S15. 7p.
Autor:
Lewanda, Amy Feldman1, Matisoff, Andrew2, Revenis, Mary3, Harahsheh, Ashraf4, Futterman, Craig5, Nino, Gustavo6, Greenberg, Jay7, Myseros, John S.8, Rosenbaum, Kenneth N.1, Summar, Marshall1, Ungern ‐ Sternberg, Britta
Publikováno v:
Pediatric Anesthesia. Apr2016, Vol. 26 Issue 4, p356-362. 7p.