1,116 results on '"Petit, Christine"'
Search Results
2. Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
3. Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
4. Novel pathogenic WHRN variant causing hearing loss in a moroccan family
5. Deafness: from genetic architecture to gene therapy
6. A free intravesicular C-terminal of otoferlin is essential for synaptic vesicle docking and fusion at auditory inner hair cell ribbon synapses
7. Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
8. Audition: Hearing and Deafness
9. Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
10. Central auditory deficits associated with genetic forms of peripheral deafness
11. The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses
12. Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
13. Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model
14. Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
15. Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane
16. ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis
17. Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
18. Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage
19. Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model
20. Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
21. Phylogenetic analysis of Harmonin homology domains
22. Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene
23. Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
24. Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome
25. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions
26. Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome
27. Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province
28. Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells
29. SIX1 Mutations Cause Branchio-Oto-Renal Syndrome by Disruption of EYA1-SIX1-DNA Complexes
30. Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G
31. Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction
32. Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians
33. Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies
34. Cost-effectiveness of influenza vaccination with a high dose quadrivalent vaccine of the elderly population in Belgium, Finland, and Portugal
35. Rab27A and Its Effector MyRIP Link Secretory Granules to F-Actin and Control Their Motion Towards Release Sites
36. Audition: Hearing and Deafness
37. Cadherins in the Auditory Sensory Organ
38. Splice-altering variant of PJVKgene in a Mauritanian family with non-syndromic hearing impairment
39. Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22
40. KCNQ4, a K + Channel Mutated in a Form of Dominant Deafness, Is Expressed in the Inner Ear and the Central Auditory Pathway
41. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
42. Characterization of Otoconin-95, the Major Protein of Murine Otoconia, Provides Insights into the Formation of these Inner Ear Biominerals
43. Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome
44. Génétique et physiologie cellulaire
45. Groupes à médiation « danse » en pédopsychiatrie* - « La pensée naît aussi du mouvement. »
46. Myosin-I nomenclature
47. Human Myosin VIIA Responsible for the Usher 1B Syndrome: A Predicted Membrane-Associated Motor Protein Expressed in Developing Sensory Epithelia
48. A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family
49. Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation
50. Audition: Hearing and Deafness
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