E-LIB Suche - Ergebnisse für: Bonnen, Penelope E.

1

Systematic review of mortality and survival rates for APDS:

Hanson, Jennifer ; Bonnen, Penelope E.
Clinical and Experimental Medicine. 24 (2024) 1 - p. , 2024

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

2

Rare diseases and space health: optimizing synergies from s..:

Puscas, Maria ; Martineau, Gabrielle ; Bhella, Gurjot...
npj Microgravity. 8 (2022) 1 - p. , 2022

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

3

RRM1 variants cause a mitochondrial DNA maintenance disorde..:

Shintaku, Jonathan ; Pernice, Wolfgang M. ; Eyaid, Wafaa...
Journal of Clinical Investigation. 132 (2022) 13 - p. , 2022

Link: https://doi.org/10.1172/..

4

TAB2 variants cause cardiovascular heart disease, connectiv..:

Hanson, Jennifer ; Brezavar, Daniel ; Hughes, Susan...
Clinical Genetics. 101 (2021) 2 - p. 214-220 , 2021

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

5

LONP1 de novo dominant mutation causes mitochondrial enceph..:

Besse, Arnaud ; Brezavar, Daniel ; Hanson, Jennifer..
Mitochondrion. 51 (2020) - p. 68-78 , 2020

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

6

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Synd..:

Alston, Charlotte L. ; Veling, Mike T. ; Heidler, Juliana...
The American Journal of Human Genetics. 106 (2020) 1 - p. 92-101 , 2020

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

7

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads ..:

Johnson, Jennifer L. ; Stoica, Loredana ; Liu, Yuwei...
Neuron. 104 (2019) 4 - p. 665-679.e8 , 2019

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

8

Mutations inELAC2associated with hypertrophic cardiomyopath..:

Saoura, Makenzie ; Powell, Christopher A. ; Kopajtich, Robert...
Human Mutation. 40 (2019) 10 - p. 1731-1748 , 2019

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

9

Incidence of PKAN determined by bioinformatic and populatio..:

Brezavar, Daniel ; Bonnen, Penelope E.
Molecular Genetics and Metabolism. 128 (2019) 4 - p. 463-469 , 2019

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

10

Novel compound mutations in the mitochondrial translation e..:

Perli, Elena ; Pisano, Annalinda ; Glasgow, Ruth I. C....
Scientific Reports. 9 (2019) 1 - p. , 2019

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

11

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/..

12

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDP..:

Ballout, Rami A. ; Al Alam, Chadi ; Bonnen, Penelope E....
Frontiers in Genetics. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

13

OXA1Lmutations cause mitochondrial encephalopathy and a com..:

Thompson, Kyle ; Mai, Nicole ; Oláhová, Monika...
EMBO Molecular Medicine. 10 (2018) 11 - p. , 2018

Link: https://doi.org/10.15252..

14

Clinical, biochemical, and genetic features of four patient..:

Fitzsimons, Patricia E. ; Alston, Charlotte L. ; Bonnen, Penelope E....
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1115-1127 , 2018

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

15

SCYL1 variants cause a syndrome with lowγ-glutamyl-transfer..:

Lenz, Dominic ; McClean, Patricia ; Kansu, Aydan...
Genetics in Medicine. 20 (2018) 10 - p. 1255-1265 , 2018

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