E-LIB Suche - Ergebnisse für: Bernard, Rafaelle

1

Best practice guidelines on genetic diagnostics of faciosca..:

Giardina, Emiliano ; Camaño, Pilar ; Burton‐Jones, Sarah...
Clinical Genetics. 106 (2024) 1 - p. 13-26 , 2024

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

2

Convergence of patient- and physician-reported outcomes in ..:

Sanson, Benoît ; Stalens, Caroline ; Guien, Céline...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

3

Facioscapulohumeral dystrophy weakened sarcomeric contracti..:

Laberthonnière, Camille ; Novoa‐del‐Toro, Elva‐Maria ; Delourme, Mégane...
Journal of Cachexia, Sarcopenia and Muscle. 13 (2021) 1 - p. 621-635 , 2021

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

4

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Se..:

Salort-Campana, Emmanuelle ; Fatehi, Farzad ; Beloribi-Djefaflia, Sadia...
International Journal of Molecular Sciences. 21 (2020) 6 - p. 2221 , 2020

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

5

SMCHD1 is involved inde novomethylation of theDUX4-encoding..:

Dion, Camille ; Roche, Stéphane ; Laberthonnière, Camille...
Nucleic Acids Research. 47 (2019) 6 - p. 2822-2839 , 2019

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

6

Inflammatory facioscapulohumeral muscular dystrophy type 2 ..:

Renard, Dimitri ; Taieb, Guillaume ; Garibaldi, Matteo...
American Journal of Medical Genetics Part A. 176 (2018) 8 - p. 1760-1763 , 2018

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

7

The French National Registry of patients with Facioscapuloh..:

Guien, Céline ; Blandin, Gaëlle ; Lahaut, Pauline...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

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

8

Molecular combing reveals complex 4q35 rearrangements in Fa..:

Nguyen, Karine ; Puppo, Francesca ; Roche, Stéphane...
Human Mutation. 38 (2017) 10 - p. 1432-1441 , 2017

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

9

Segregation between SMCHD1 mutation, D4Z4 hypomethylation a..:

Gaillard, Marie-Cécile ; Puppo, Francesca ; Roche, Stéphane...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

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

10

Low penetrance in facioscapulohumeral muscular dystrophy ty..:

Salort-Campana, Emmanuelle ; Nguyen, Karine ; Bernard, Rafaelle...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. 2 , 2015

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

11

Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers..:

Didic, Mira ; Felician, Olivier ; Gour, Natalina...
European Journal of Nuclear Medicine and Molecular Imaging. 42 (2015) 10 - p. 1512-1521 , 2015

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

12

Novel Pathogenic Variants in a French Cohort Widen the Muta..:

Cerino, Mathieu ; Gorokhova, Svetlana ; Béhin, Anthony...
Journal of Neuromuscular Diseases. 2 (2015) 2 - p. 131-136 , 2015

Link: https://doi.org/10.3233/..

13

Identification of Variants in the 4q35 GeneFAT1in Patients ..:

Puppo, Francesca ; Dionnet, Eugenie ; Gaillard, Marie-Cécile...
Human Mutation. 36 (2015) 4 - p. 443-453 , 2015

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

14

Differential DNA methylation of theD4Z4repeat in patients w..:

Gaillard, Marie-Cécile ; Roche, Stéphane ; Dion, Camille...
Neurology. 83 (2014) 8 - p. 733-742 , 2014

Link: https://doi.org/10.1212/..

15

A Novel Mutation inFGD4/FRABINCauses Charcot Marie Tooth Di..:

Boubaker, Chokri ; Hsairi-Guidara, Inès ; Castro, Christel...
Annals of Human Genetics. 77 (2013) 4 - p. 336-343 , 2013

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