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P403: Role of comprehensive renal genetic testing in diagno..:
Stein, Quinn
;
Mascarenhas, Ryan
;
Punj, Sumit
...
Genetics in Medicine Open. 2 (2024) - p. 101297 , 2024
Link:
https://doi.org/10.1016/j.gimo.2024.101297
RT Journal T1
P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2024.101297&Exemplar=1&LAN=DE A1 Stein, Quinn A1 Mascarenhas, Ryan A1 Punj, Sumit A1 Westemeyer, Maggie A1 Hendricks, Emily A1 Pitman, Tessa A1 Hager, Meg A1 Baddar, Nour A1 Connors, Kristen A1 Bacher, Alexa A1 Larson, Robin A1 Zec, Lauren A1 Stoddard, Jennifer PB Elsevier BV YR 2024 SN 2949-7744 JF Genetics in Medicine Open VO 2 SP 101297 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2024.101297 DO https://doi.org/10.1016/j.gimo.2024.101297 SF ELIB - SuUB Bremen
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