E-LIB Suche - Ergebnisse für: Trimouille, Aurélien

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

Pharmacogénétique de l'ototoxicité des aminosides : état de..:

Lebreton, Louis ; Hennart, Benjamin ; Baklouti, Sarah...
Therapies. , 2024

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

3

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics. , 2024

Link: https://doi.org/10.1136/..

4

Mutation on MT-CO2 gene induces mitochondrial disease assoc..:

Courtois, Sarah ; Angelini, Chloé ; M. Durand, Christelle...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870 (2024) 1 - p. 166856 , 2024

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

5

Wells syndrome and acquired cutis laxa: An atypical associa..:

Bouquerel, Margot ; Dequidt, Laure ; Jullie, Marie‐Laure...
The Journal of Dermatology. 50 (2023) 11 - p. , 2023

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

6

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

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

7

Intégration des données histo-pathologiques, biochimiques e..:

Trimouille, Aurélien ; Courtois, Sarah ; Angelini, Chloé...
Morphologie. 107 (2023) 359 - p. 100623 , 2023

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

8

Renal involvement is frequent in adults with primary mitoch..:

Bakis, Hugo ; Trimouille, Aurélien ; Vermorel, Agathe...
Clinical Kidney Journal. 16 (2022) 1 - p. 100-110 , 2022

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

9

Whole-exome sequencing confirms implication of VPS13D as a ..:

Durand, Christelle M. ; Angelini, Chloé ; Michaud, Vincent...
BMC Neurology. 22 (2022) 1 - p. , 2022

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

10

Hemidystonia with polymicrogyria is part of ATP1A3-related ..:

Lacombe, Didier ; Van-Gils, Julien ; Lebrun, Marine...
Brain and Development. 44 (2022) 8 - p. 567-570 , 2022

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

11

Correspondence on "De novo variants in MED12 cause X-linked..:

Riccardi, Florence ; Astier, Alexandre ; Grisval, Margot...
Genetics in Medicine. 23 (2021) 10 - p. 2003-2004 , 2021

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

12

CHN1 and duane retraction syndrome: Expanding the phenotype..:

Angelini, Chloé ; Trimouille, Aurélien ; Arveiler, Benoit...
European Journal of Medical Genetics. 64 (2021) 4 - p. 104188 , 2021

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

13

Implication of folate deficiency in CYP2U1 loss of function:

Pujol, Claire ; Legrand, Anne ; Parodi, Livia...
Journal of Experimental Medicine. 218 (2021) 11 - p. , 2021

Link: https://doi.org/10.1084/..

14

A recurrent missense variant in EYA3 gene is associated wit..:

Tingaud-Sequeira, Angèle ; Trimouille, Aurélien ; Salaria, Manju...
Human Genetics. 140 (2021) 6 - p. 933-944 , 2021

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

15

Biochemical consequences of two clinically relevant ND-gene..:

Nuber, Franziska ; Schimpf, Johannes ; di Rago, Jean-Paul...
Scientific Reports. 11 (2021) 1 - p. , 2021

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