E-LIB Suche - Ergebnisse für: Rius, Rocío

1

OVIEDO, Eduardo Daniel (2023) Relaciones internacionales en..:

Rius, Rocio
CUPEA Cuadernos de Política Exterior Argentina. , 2023

Link: https://doi.org/10.35305..

2

TEFM variants impair mitochondrial transcription causing ch..:

Van Haute, Lindsey ; O'Connor, Emily ; Díaz-Maldonado, Héctor...
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

3

Any symptom, in any organ, at any age: A case report of mul..:

Ratnayake, Chathri ; Rius, Rocio ; Wallis, Mathew..
Nephrology. 27 (2022) 7 - p. 640-641 , 2022

Link: https://doi.org/10.1111/..

4

Biallelic pathogenic variants inCOX11are associated with an..:

Rius, Rocio ; Bennett, Neal K. ; Bhattacharya, Kaustuv...
Human Mutation. 43 (2022) 12 - p. 1970-1978 , 2022

Link: https://doi.org/10.1002/..

5

Distinct diagnostic trajectories in NBAS‐associated acute l..:

Akesson, Lauren S. ; Rius, Rocio ; Brown, Natasha J....
JIMD Reports. 63 (2022) 3 - p. 240-249 , 2022

Link: https://doi.org/10.1002/..

6

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Rec..:

Frazier, Ann E. ; Compton, Alison G. ; Kishita, Yoshihito...
Med. 2 (2021) 1 - p. 49-73.e10 , 2021

Link: https://doi.org/10.1016/..

7

Patient care standards for primary mitochondrial disease in..:

Sue, Carolyn M. ; Balasubramaniam, Shanti ; Bratkovic, Drago...
Internal Medicine Journal. 52 (2021) 1 - p. 110-120 , 2021

Link: https://doi.org/10.1111/..

8

Application of Genome Sequencing from Blood to Diagnose Mit..:

Rius, Rocio ; Compton, Alison G. ; Baker, Naomi L....
Genes. 12 (2021) 4 - p. 607 , 2021

Link: https://doi.org/10.3390/..

9

Genomic sequencing for the diagnosis of childhood mitochond..:

Wu, You ; Balasubramaniam, Shanti ; Rius, Rocio...
European Journal of Human Genetics. 30 (2021) 5 - p. 577-586 , 2021

Link: https://doi.org/10.1038/..

10

The diagnostic utility of genome sequencing in a pediatric ..:

Riley, Lisa G. ; Cowley, Mark J. ; Gayevskiy, Velimir...
Genetics in Medicine. 22 (2020) 7 - p. 1254-1261 , 2020

Link: https://doi.org/10.1038/..

11

Genomic sequencing highlights the diverse molecular causes ..:

Tucker, Elena J. ; Rius, Rocio ; Jaillard, Sylvie...
Human Genetics. 139 (2020) 10 - p. 1325-1343 , 2020

Link: https://doi.org/10.1007/..

12

Clinical Spectrum and Functional Consequences Associated wi..:

Rius, Rocio ; Van Bergen, Nicole J. ; Compton, Alison G....
Journal of Clinical Medicine. 8 (2019) 11 - p. 2020 , 2019

Link: https://doi.org/10.3390/..

13

Biparental inheritance of mitochondrial DNA in humans is no..:

Rius, Rocio ; Cowley, Mark J. ; Riley, Lisa...
Genetics in Medicine. 21 (2019) 12 - p. 2823-2826 , 2019

Link: https://doi.org/10.1038/..

14

Cryptic intronic NBAS variant reveals the genetic basis of ..:

Rius, Rocio ; Riley, Lisa G. ; Guo, Yiran...
Molecular Genetics and Metabolism. 126 (2019) 1 - p. 77-82 , 2019

Link: https://doi.org/10.1016/..

15

Leigh syndrome caused by mutations in MTFMT is associated w..:

Hayhurst, Hannah ; de Coo, Irenaeus F. M. ; Piekutowska‐Abramczuk, Dorota...
Annals of Clinical and Translational Neurology. 6 (2019) 3 - p. 515-524 , 2019

Link: https://doi.org/10.1002/..