652 results on '"Kremer, Hannie"'
Search Results
2. The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
3. A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa
4. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
5. Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
6. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
7. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
8. Novel gene discovery for hearing loss and other routes to increased diagnostic rates
9. Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
10. AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9
11. Generation of Humanized Zebrafish Models for the In Vivo Assessment of Antisense Oligonucleotide-Based Splice Modulation Therapies
12. Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
13. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
14. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
15. Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology
16. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
17. Analysis of Rotterdam Study cohorts confirms a previously identifiedRIPOR2in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands
18. Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
19. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
20. Antisense Oligonucleotide Design and Evaluation of Splice-Modulating Properties Using Cell-Based Assays
21. Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.
22. Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
23. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
24. Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
25. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
26. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
27. Genetics of Hearing Impairment
28. POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2)
29. SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
30. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
31. Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
32. Genetic Analysis of Spermatogenesis in Drosophila Hydei: Male Sterile Mutations Affecting Nuclear Development During the Primary Spermatocyte Stage
33. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
34. Novel gene discovery for hearing loss and other routes to increased diagnostic rates
35. Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes
36. Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa
37. Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
38. Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
39. Exploring the Missing Heritability in Subjects With Hearing Loss, Enlarged Vestibular Aqueducts, and A Single or No Pathogenic SLC26A4 Variant
40. Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant (Human Genetics, (2021), 10.1007/s00439-021-02336-6)
41. Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
42. Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing
43. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
44. Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction
45. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss
46. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment
47. Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis
48. Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands
49. Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study
50. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
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