E-LIB Suche - Ergebnisse für: Cameron, Jessie

1

P272: Novel biallelic missense variants in C2orf69 cause co..:

Oh, Youjin ; Yoon, Grace ; Maier, Michael...
Genetics in Medicine Open. 2 (2024) - p. 101168 , 2024

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

2

P046: ACMG/AMP variant classification framework in arginase..:

Osundiji, Mayowa ; Cameron, Jessie ; Olson, Rory..
Genetics in Medicine Open. 2 (2024) - p. 100923 , 2024

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

3

Biallelic pathogenic variants in the mitochondrial form of ..:

Sondheimer, Neal ; Aleman, Alberto ; Cameron, Jessie...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100182 , 2023

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

4

Primary Hyperoxaluria Screening and Monitoring: Quantitativ..:

Yazdanpanah, Mehrdad ; Cameron, Jessie ; Chappel, Chandra.
Annals of Laboratory Medicine. 44 (2023) 3 - p. 235-244 , 2023

Link: https://doi.org/10.3343/..

5

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne...
Genetics in Medicine. 24 (2022) 4 - p. 967 , 2022

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

6

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne...
Genetics in Medicine. 23 (2021) 12 - p. 2415-2425 , 2021

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

7

Is impaired energy production a novel insight into the path..:

Minenkova, Anastasia ; Jansen, Erwin E. W. ; Cameron, Jessie...
PLOS ONE. 16 (2021) 9 - p. e0257073 , 2021

Link: https://doi.org/10.1371/..

8

Obituary for Dr. Brian H. Robinson, PhD:

Cameron, Jessie ; Tein, Ingrid
Journal of Inherited Metabolic Disease. 45 (2021) 1 - p. 126-126 , 2021

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

9

Bi-allelic mutations ofLONP1encoding the mitochondrial LonP..:

Nimmo, Graeme A M ; Venkatesh, Sundararajan ; Pandey, Ashutosh K...
Human Molecular Genetics. 28 (2018) 2 - p. 290-306 , 2018

Link: https://doi.org/10.1093/..

10

Novel homozygous PCK1 mutation causing cytosolic phosphoeno..:

Vieira, Päivi ; Cameron, Jessie ; Rahikkala, Elisa...
Molecular Genetics and Metabolism. 120 (2017) 4 - p. 337-341 , 2017

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

11

Thiamine Deficiency-Mediated Brain Mitochondrial Pathology ..:

Vernau, Karen ; Napoli, Eleonora ; Wong, Sarah...
Brain Pathology. 25 (2014) 4 - p. 441-453 , 2014

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

12

Mitochondrial integrity is impaired in MELAS patients (LB16..:

Joseph, Rosette ; Green, Alexander ; Cameron, Jessie.
The FASEB Journal. 28 (2014) S1 - p. , 2014

Link: https://doi.org/10.1096/..

13

Intermittent peripheral weakness as the presenting feature ..:

Debray, Francois-G. ; Lambert, Marie ; Vanasse, Michel...
European Journal of Pediatrics. 165 (2006) 7 - p. 462-466 , 2006

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

14

Altered Mitochondrial Structure and Motion Dynamics in Livi..:

Pham, Nhu-An ; Richardson, Tim ; Cameron, Jessie..
Microscopy and Microanalysis. 10 (2004) 2 - p. 247-260 , 2004

Link: https://doi.org/10.1017/..

15

Identification and characterisation of a novel gene, TSGA10..:

Hossein Modarressi, Mohammad ; Cameron, Jessie ; Taylor, Kay Elizabeth.
Gene. 262 (2001) 1-2 - p. 249-255 , 2001

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