E-LIB Suche - Ergebnisse für: Rouzier, C.

1

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variant..:

Baz, M. ; Gondran-Teiller, V. ; Bressac, B....
Digestive Diseases and Sciences. 68 (2022) 4 - p. 1525-1528 , 2022

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

2

Non-juvenile familial form of malignant catecholaminergic p..:

Bun, S. ; Squara, F. ; Scarlatti, D....
Archives of Cardiovascular Diseases Supplements. 13 (2021) 1 - p. 96 , 2021

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

3

Psycho-social impact of predictive genetic testing in hered..:

Bordet, C. ; Brice, S. ; Maupain, C....
Archives of Cardiovascular Diseases Supplements. 12 (2020) 1 - p. 32-33 , 2020

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

4

Molecular diagnosis and genetic counseling for spinal muscu..:

Rouzier, C. ; Chaussenot, A. ; Paquis-Flucklinger, V.
Archives de Pédiatrie. 27 (2020) 7 - p. 7S9-7S14 , 2020

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

5

Prescription de la scintigraphie au pyrophosphate marqué au..:

Courdurie, A. ; Doyen, D. ; Richez, V....
La Revue de Médecine Interne. 40 (2019) - p. A49-A50 , 2019

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

6

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA De..:

Kaphan, E. ; Bou Ali, H. ; Gastaldi, M....
Revue Neurologique. 174 (2018) 10 - p. 731-735 , 2018

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

7

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: ..:

Guissart, C. ; Dubucs, C. ; Raynal, C....
Journal of Cystic Fibrosis. 16 (2017) 2 - p. 198-206 , 2017

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

8

Mutation update and uncommon phenotypes in a French cohort ..:

Chaussenot, A. ; Rouzier, C. ; Quere, M....
Clinical Genetics. 87 (2014) 5 - p. 430-439 , 2014

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

9

Syndrome de Wolfram familial:

Bessahraoui, M. ; Paquis, V. ; Rouzier, C....
Archives de Pédiatrie. 21 (2014) 11 - p. 1229-1232 , 2014

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

10

Diagnostic des maladies mitochondriales Place de l'investig..:

Cano, A. ; Chaussenot, A. ; Rouzier, C...
Archives de Pédiatrie. 21 (2014) 5 - p. 45-47 , 2014

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

11

Sécrétion extra-gestationnelle de ßHCG révélatrice d'un car..:

Fénichel, P. ; Butori, C. ; Rouzier, C....
Annales d'Endocrinologie. 74 (2013) 4 - p. 384 , 2013

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

12

Intérêt de la recherche de grand réarrangement intragénique..:

Rouzier, C. ; Chaussenot, A. ; Richelme, C....
Revue Neurologique. 169 (2013) - p. A225 , 2013

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

13

P274 – 2135 Acetyl Co A deficit: first prenatal diagnosis. ..:

Pitelet, G ; Paquis, V ; Trastour, C...
European Journal of Paediatric Neurology. 17 (2013) - p. S129 , 2013

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

14

Reply: MFN2, a new gene responsible for mitochondrial DNA d..:

Rouzier, C. ; Serre, V. ; Chaussenot, A....
Brain. 135 (2012) 8 - p. e224-e224 , 2012

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

15

Reply: MFN2 mutations cause compensatory mitochondrial DNA ..:

Rouzier, C. ; Bannwarth, S. ; Chaussenot, A....
Brain. 135 (2012) 8 - p. e220-e220 , 2012

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