Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sepideh Rezakhani"'
Autor:
Ali Nikkhah, Sepideh Rezakhani
Publikováno v:
Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771‐6C > G intronic variant presenting as developmental regression, seizure, and dyst
Externí odkaz:
https://doaj.org/article/08667702755b438c9196cb9612f00905
Publikováno v:
Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygo
Externí odkaz:
https://doaj.org/article/7811086722f04de7b3dbdd89e10ac15d
Autor:
Miklos Z. Molnar, Csaba P. Kovesdy, Sepideh Rezakhani, Elani Streja, Kamyar Kalantar-Zadeh, Hamid Moradi, Melissa Soohoo, Vanessa A. Ravel
Publikováno v:
Nephrology Dialysis Transplantation. 31:814-822
Nephrol Dial Transplant (2016) 31: 814–822 doi: 10.1093/ndt/gfv310 Advance Access publication 1 September 2015 Association of aspartate aminotransferase with mortality in hemodialysis patients Vanessa Ravel 1 , Elani Streja 1 , Miklos Z. Molnar 2 ,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fcc4306b44254349bc532777e24aba0
https://doi.org/10.1093/ndt/gfv310
https://doi.org/10.1093/ndt/gfv310