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Crystel Bonnet

Showing results (41-50 of 72) with videos related to

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American Journal of Human Genetics|June 4, 2016
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessSedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|November 16, 2013
Discovery of a large deletion of KAL1 in 2 deaf brothersSandrine Marlin, Sandra Chantot-Bastaraud, Albert David, et al.
European Journal of Ophthalmology|October 31, 2018
A novel missense mutation of <i>GJA8</i> causes congenital cataract in a large Mauritanian familyMouna Hadrami, Crystel Bonnet, Fatimetou Veten, et al.
Scientific Reports|January 2, 2025
Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorderAmal Bouzid, Malek Belcadhi, Amal Souissi, et al.
International Journal of Pediatric Otorhinolaryngology|July 17, 2013
A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian familiesZied Riahi, Houda Chahed, Habib Jaafoura, et al.
International Journal of Molecular Sciences|October 13, 2021
Characteristics of Retinitis Pigmentosa Associated with <i>ADGRV1</i> and Comparison with <i>USH2A</i> in Patients from a Multicentric Usher Syndrome Study TreatrushAna Fakin, Crystel Bonnet, Anne Kurtenbach, et al.
Retina (Philadelphia, Pa.)|November 10, 2016
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2AFrancesco Testa, Paolo Melillo, Crystel Bonnet, et al.
Journal of Applied Genetics|September 4, 2024
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairmentMalak Salame, Crystel Bonnet, Amrit Singh-Estivalet, et al.
Molecular Vision|August 2, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucomaMouna Hadrami, Crystel Bonnet, Christina Zeitz, et al.
Investigative Ophthalmology & Visual Science|April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortVasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|June 4, 2016
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessSedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|November 16, 2013
Discovery of a large deletion of KAL1 in 2 deaf brothersSandrine Marlin, Sandra Chantot-Bastaraud, Albert David, et al.
European Journal of Ophthalmology|October 31, 2018
A novel missense mutation of <i>GJA8</i> causes congenital cataract in a large Mauritanian familyMouna Hadrami, Crystel Bonnet, Fatimetou Veten, et al.
Scientific Reports|January 2, 2025
Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorderAmal Bouzid, Malek Belcadhi, Amal Souissi, et al.
International Journal of Pediatric Otorhinolaryngology|July 17, 2013
A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian familiesZied Riahi, Houda Chahed, Habib Jaafoura, et al.
International Journal of Molecular Sciences|October 13, 2021
Characteristics of Retinitis Pigmentosa Associated with <i>ADGRV1</i> and Comparison with <i>USH2A</i> in Patients from a Multicentric Usher Syndrome Study TreatrushAna Fakin, Crystel Bonnet, Anne Kurtenbach, et al.
Retina (Philadelphia, Pa.)|November 10, 2016
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2AFrancesco Testa, Paolo Melillo, Crystel Bonnet, et al.
Journal of Applied Genetics|September 4, 2024
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairmentMalak Salame, Crystel Bonnet, Amrit Singh-Estivalet, et al.
Molecular Vision|August 2, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucomaMouna Hadrami, Crystel Bonnet, Christina Zeitz, et al.
Investigative Ophthalmology & Visual Science|April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortVasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.
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