E-LIB Suche - Ergebnisse für: Rouzier, Cécile

1

Primary mitochondrial disorders and mimics: Insights from a..:

Rouzier, Cécile ; Pion, Emmanuelle ; Chaussenot, Annabelle...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1478-1491 , 2024

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

2

Autosomal recessive pathogenic MSTO1 variants in hereditary..:

Gerber, Sylvie ; Lessard, Lola ; Rouzier, Cécile...
EMBO Molecular Medicine. 15 (2023) 8 - p. , 2023

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

3

UQCRC2-related mitochondrial complex III deficiency, about ..:

Bansept, Claire ; Gaignard, Pauline ; Lebigot, Elise...
Mitochondrion. 68 (2023) - p. 138-144 , 2023

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

4

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial D..:

Serag, Mounir ; Plutino, Morgane ; Charles, Perrine...
Genes. 14 (2023) 12 - p. 2154 , 2023

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

5

Splicing variants in NARS2 are associated with milder pheno..:

Ait-El-Mkadem Saadi, Samira ; Kaphan, Elsa ; Morales Jaurrieta, Amaya...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104643 , 2022

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

6

Improved detection of mitochondrial DNA instability in mito..:

Bris, Celine ; Goudenège, David ; Desquiret-Dumas, Valerie...
Genetics in Medicine. 23 (2021) 9 - p. 1769-1778 , 2021

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

7

Psychosocial Impact of Predictive Genetic Testing in Heredi..:

Bordet, Céline ; Brice, Sandrine ; Maupain, Carole...
Journal of Clinical Medicine. 9 (2020) 5 - p. 1365 , 2020

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

8

Single Circulating Fetal Trophoblastic Cells Eligible for N..:

Cayrefourcq, Laure ; Vincent, Marie-Claire ; Pierredon, Sandra...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

9

NDUFS6 related Leigh syndrome: a case report and review of ..:

Rouzier, Cécile ; Chaussenot, Annabelle ; Fragaki, Konstantina...
Journal of Human Genetics. 64 (2019) 7 - p. 637-645 , 2019

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

10

A novel variant m.8561C>T in the overlapping region of MT-A..:

Fragaki, Konstantina ; Chaussenot, Annabelle ; Serre, Valerie...
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100543 , 2019

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

11

Targeted next generation sequencing with an extended gene p..:

Plutino, Morgane ; Chaussenot, Annabelle ; Rouzier, Cécile...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

12

A novel CISD2 mutation associated with a classical Wolfram ..:

Rouzier, Cécile ; Moore, David ; Delorme, Cécile...
Human Molecular Genetics. 26 (2017) 9 - p. 1786-1786 , 2017

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

13

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Ear..:

Ait-El-Mkadem, Samira ; Dayem-Quere, Manal ; Gusic, Mirjana...
The American Journal of Human Genetics. 100 (2017) 1 - p. 151-159 , 2017

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

14

A novel CISD2 mutation associated with a classical Wolfram ..:

Rouzier, Cécile ; Moore, David ; Delorme, Cécile...
Human Molecular Genetics. 26 (2017) 9 - p. 1599-1611 , 2017

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

15

Assembly defects of multiple respiratory chain complexes in..:

Fragaki, Konstantina ; Chaussenot, Annabelle ; Boutron, Audrey...
Molecular Genetics and Metabolism. 121 (2017) 3 - p. 224-226 , 2017

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