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Crystel Bonnet

Showing results (61-70 of 72) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|June 20, 2023
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapiesPhilippe Jean, Fabienne Wong Jun Tai, Amrit Singh-Estivalet, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
International Journal of Molecular Sciences|August 7, 2021
Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone DystrophyChristina Zeitz, Cécile Méjécase, Christelle Michiels, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
Plos One|October 6, 2021
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairmentRahma Mkaouar, Zied Riahi, Cherine Charfeddine, et al.
Frontiers in Genetics|July 10, 2024
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory healthRahma Mkaouar, Zied Riahi, Jihene Marrakchi, et al.
Frontiers in Genetics|May 7, 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory healthRahma Mkaouar, Zied Riahi, Jihene Marrakchi, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 24, 2020
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusisSophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani, et al.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2023
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapiesPhilippe Jean, Fabienne Wong Jun Tai, Amrit Singh-Estivalet, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
International Journal of Molecular Sciences|August 7, 2021
Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone DystrophyChristina Zeitz, Cécile Méjécase, Christelle Michiels, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
Plos One|October 6, 2021
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairmentRahma Mkaouar, Zied Riahi, Cherine Charfeddine, et al.
Frontiers in Genetics|July 10, 2024
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory healthRahma Mkaouar, Zied Riahi, Jihene Marrakchi, et al.
Frontiers in Genetics|May 7, 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory healthRahma Mkaouar, Zied Riahi, Jihene Marrakchi, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 24, 2020
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusisSophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani, et al.
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
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