E-LIB Suche - Ergebnisse für: Jonard, Laurence

1

HDR syndrome: Large cohort and systematic review:

Rive Le Gouard, Nicolas ; Lafond‐Rive, Valentin ; Jonard, Laurence...
Clinical Genetics. , 2024

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

2

RIPOR2: A new gene of non‐syndromic cochleovestibular dysfu..:

Morel, Godelieve ; Ernest, Sylvain ; Serey‐Gaut, Margaux...
Clinical Genetics. 104 (2023) 6 - p. 669-673 , 2023

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

3

Genetic Evaluation of Prelingual Hearing Impairment: Recomm..:

Jonard, Laurence ; Brotto, Davide ; Moreno-Pelayo, Miguel A....
Audiology Research. 13 (2023) 3 - p. 341-346 , 2023

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

4

Mild MDPL in a patient with a novel de novo missense varian..:

Chopra, Maya ; Caswell, Richard ; Barcia, Giulia...
European Journal of Human Genetics. 30 (2022) 8 - p. 960-966 , 2022

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

5

Mutation m.3395A > G in MT-ND1 leads to variable pathologic..:

Rocher, Christophe ; Marlin, Sandrine ; Jonard, Laurence...
Human Molecular Genetics. 29 (2020) 6 - p. 980-989 , 2020

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

6

PRPS1 loss-of-function variants, from isolated hearing loss..:

Mercati, Oriane ; Abi Warde, Marie-Thérèse ; Lina-Granade, Geneviève...
European Journal of Medical Genetics. 63 (2020) 11 - p. 104033 , 2020

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

7

MED12 missense mutation in a three-generation family. Clini..:

Rubinato, Elisa ; Rondeau, Sophie ; Giuliano, Fabienne...
European Journal of Medical Genetics. 63 (2020) 3 - p. 103768 , 2020

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

8

High prevalence of congenital deafness on Reunion Island is..:

Lerat, Justine ; Bonnet, Crystel ; Cartault, François...
Clinical Genetics. 95 (2018) 1 - p. 177-181 , 2018

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

9

Whole Exome Sequencing Identifies New Causative Mutations i..:

Riahi, Zied ; Bonnet, Crystel ; Zainine, Rim...
PLoS ONE. 9 (2014) 6 - p. e99797 , 2014

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

10

Update of the spectrum of GJB2 gene mutations in Tunisian f..:

Riahi, Zied ; Hammami, Hassen ; Ouragini, Houyem...
Gene. 525 (2013) 1 - p. 1-4 , 2013

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

11

Progressive hearing loss associated with a unique cervical ..:

Jonard, Laurence ; Couloigner, Vincent ; Pierrot, Sébastien...
European Journal of Medical Genetics. 55 (2012) 1 - p. 56-58 , 2012

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

12

Next generation sequencing: The technology we need in pedia..:

Couderc, Rémy ; Jonard, Laurence ; Louha, Malek
Clinical Biochemistry. 44 (2011) 7 - p. 514-515 , 2011

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

13

Complete exon sequencing of all known Usher syndrome genes ..:

Bonnet, Crystel ; Grati, M'hamed ; Marlin, Sandrine...
Orphanet Journal of Rare Diseases. 6 (2011) 1 - p. , 2011

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

14

Molecular and cellular characteristics of ABCA3 mutations a..:

Flamein, Florence ; Riffault, Laure ; Muselet-Charlier, Céline...
Human Molecular Genetics. 21 (2011) 4 - p. 765-775 , 2011

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

15

Temperature-sensitive auditory neuropathy associated with a..:

Marlin, Sandrine ; Feldmann, Delphine ; Nguyen, Yann...
Biochemical and Biophysical Research Communications. 394 (2010) 3 - p. 737-742 , 2010

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