183 results on '"Weil Dominique"'
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2. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
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3. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy
4. RNA at the surface of phase-separated condensates impacts their size and number
5. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease
6. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
7. Re-viewing the 3D Organization of mRNPs
8. Tau/DDX6 interaction increases microRNA activity
9. P-Bodies: Cytosolic Droplets for Coordinated mRNA Storage
10. SIX1 Mutations Cause Branchio-Oto-Renal Syndrome by Disruption of EYA1-SIX1-DNA Complexes
11. P-Body Purification Reveals the Condensation of Repressed mRNA Regulons
12. Dual RNA Processing Roles of Pat1b via Cytoplasmic Lsm1-7 and Nuclear Lsm2-8 Complexes
13. Human Myosin VIIA Responsible for the Usher 1B Syndrome: A Predicted Membrane-Associated Motor Protein Expressed in Developing Sensory Epithelia
14. Laparoscopic adjustable gastric banding in adolescents: Results at two years including psychosocial aspects
15. RNA is a critical element for the sizing and the composition of phase-separated RNA–protein condensates
16. Condensate functionalization with microtubule motors directs their nucleation in space and allows manipulating RNA localization.
17. Esophageal atresia: Data from a national cohort
18. Cytoplasmic organelles on the road to mRNA decay
19. P-bodies and mitochondria: Which place in RNA interference?
20. Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia
21. Mitochondria Associate with P-bodies and Modulate MicroRNA-mediated RNA Interference
22. Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia?
23. Wandering spleen in children: multicenter retrospective study
24. Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
25. Evolution is not Uniform Along Coding Sequences.
26. A Study of Chromosomal Changes Associated with Amplified Dihydrofolate Reductase Genes in Rat Hepatoma Cells and Their Dedifferentiated Variants
27. Human Type I Procollagen Genes are Located on Different Chromosomes
28. Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells
29. Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells
30. CPEB Interacts with an Ovary-specific eIF4E and 4E-T in Early Xenopus Oocytes
31. Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia?
32. Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin
33. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
34. CPEB1, a novel gene silenced in gastric cancer: a Drosophila approach
35. Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
36. Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells
37. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
38. Autosomal recessive and sporadic deafness in Morocco: High frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant
39. Interactions in the network of Usher syndrome type 1 proteins
40. High frequency trans-splicing in a cell line producing spliced and polyadenylated RNA polymerase I transcripts from an rDNA-myc chimeric gene
41. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25
42. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
43. A specific promoter of the sensory cells of the inner ear defined by transgenesis
44. Connexin 26 gene linked to a dominant deafness
45. Comparative ultrastructure of CRM1-Nucleolar bodies (CNoBs), Intranucleolar bodies (INBs) and hybrid PML/p62 bodies uncovers new facets of nuclear body dynamic and diversity
46. Defective myosin VIIA gene responsible for Usher syndrome type 1B
47. Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
48. Langage parle a l'ecole et dans la famille (The Language Spoken at Home and in School)
49. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
50. Accumulation of mature mRNA in the nuclear fraction of mammalian cells
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