Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kalina J. Reese"'
Autor:
Gabrielle N. Kennedy, Brenna N. Walton, Neveen A. Soliman, Dawn S. Milliner, Sarah R. Senum, Lada Beara-Lasic, Laura M. Reynolds, David J. Sas, Jennifer Arroyo, Andrea G. Cogal, Peter C. Harris, David S. Goldfarb, Ronak Jagdeep Shah, Stephen B. Erickson, Barbara M. Seide, Sujatha Jagadeesh, John C. Lieske, Kalina J. Reese, Vidar O. Edvardsson, Michelle A. Baum, Runolfur Palsson
Publikováno v:
Kidney International Reports
Introduction Because of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ec313df6277a891202bf313a40871b
http://europepmc.org/articles/PMC8589729
http://europepmc.org/articles/PMC8589729
Publikováno v:
American journal of medical genetics. Part A. 179(3)
The most frequent cause of isolated complex III deficits is mutations to the nuclear-encoded ATPase BCS1L. Disease phenotypes are varied and can be as mild as Bjornstad syndrome, characterized by pili torti and sensorineural hearing loss, or as sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75da5ee8149310847637dc5df0939c98
https://pubmed.ncbi.nlm.nih.gov/30582773
https://pubmed.ncbi.nlm.nih.gov/30582773