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Using multi-scale genomics to associate poorly annotated genes with rare diseases.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01276-2
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- Article
Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges.
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- Audiology Research, 2023, v. 13, n. 6, p. 952, doi. 10.3390/audiolres13060083
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- Article
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
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- Human Genetics, 2023, v. 142, n. 8, p. 1077, doi. 10.1007/s00439-022-02506-0
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- Article
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
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- Human Molecular Genetics, 2023, v. 32, n. 14, p. 2265, doi. 10.1093/hmg/ddad066
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- Publication type:
- Article
Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.72681
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- Publication type:
- Article
Bats experience age-related hearing loss (presbycusis).
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- Life Science Alliance, 2023, v. 6, n. 6, p. 1, doi. 10.26508/lsa.202201847
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- Article
Molecular Features of SLC26A4 Common Variant p.L117F.
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- Journal of Clinical Medicine, 2022, v. 11, n. 19, p. 5549, doi. 10.3390/jcm11195549
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- Article
The noncoding genome and hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 323, doi. 10.1007/s00439-021-02359-z
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- Article
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
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- Annals of Human Genetics, 2022, v. 86, n. 1, p. 1, doi. 10.1111/ahg.12442
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- Article
Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness.
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- EMBO Molecular Medicine, 2021, v. 13, n. 2, p. 1, doi. 10.15252/emmm.202013259
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- Article
Expression pattern of cochlear microRNAs in the mammalian auditory hindbrain.
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- Cell & Tissue Research, 2021, v. 383, n. 2, p. 655, doi. 10.1007/s00441-020-03290-x
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- Article
Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18894-8
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- Article
A mouse model for benign paroxysmal positional vertigo with genetic predisposition for displaced otoconia.
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- Genes, Brain & Behavior, 2020, v. 19, n. 5, p. 1, doi. 10.1111/gbb.12635
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- Article
Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain.
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- Neurochemical Research, 2019, v. 44, n. 6, p. 1494, doi. 10.1007/s11064-019-02723-6
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- Article
Striatin is a novel modulator of cell adhesion.
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- FASEB Journal, 2019, v. 33, n. 4, p. 4729, doi. 10.1096/fj.201801882R
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- Article
Abstracts from the Fifteenth Rambam Research Day, December 20, 2018.
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- Rambam Maimonides Medical Journal, 2019, v. 10, n. 1, p. 1, doi. 10.5041/RMMJ.10362
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- Article
DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35587-x
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- Article
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
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- Human Mutation, 2018, v. 39, n. 11, p. 1593, doi. 10.1002/humu.23630
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- Article
Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0161-7
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- Article
miR-96 is required for normal development of the auditory hindbrain.
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- Human Molecular Genetics, 2018, v. 27, n. 5, p. 860, doi. 10.1093/hmg/ddy007
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- Publication type:
- Article
Reduced changes in protein compared to mRNA levels across non-proliferating tissues.
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- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3683-9
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- Article
What's hot about otoferlin.
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- EMBO Journal, 2016, v. 35, n. 23, p. 2502, doi. 10.15252/embj.201695881
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- Publication type:
- Article
The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI.
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- Journal of Physiology, 2016, v. 594, n. 13, p. 3667, doi. 10.1113/JP272220
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- Article
Israel Society for Auditory Research (ISAR): 2014 Annual Scientific Conference.
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- Journal of Basic & Clinical Physiology & Pharmacology, 2014, v. 25, n. 3, p. 267, doi. 10.1515/jbcpp-2014-0077
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- Article
Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.
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- Journal of Basic & Clinical Physiology & Pharmacology, 2014, v. 25, n. 3, p. 289, doi. 10.1515/jbcpp-2014-0053
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- Publication type:
- Article
Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways.
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- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-484
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- Article
microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3138, doi. 10.1093/hmg/ddu023
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- Article
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 768, doi. 10.1038/ejhg.2013.232
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- Article
MicroRNAs in sensorineural diseases of the ear.
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- Frontiers in Molecular Neuroscience, 2013, v. 6, p. 1, doi. 10.3389/fnmol.2013.00052
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- Article
Israel Society for Auditory Research (ISAR): 2013 Annual Scientific Conference.
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- Journal of Basic & Clinical Physiology & Pharmacology, 2013, v. 24, n. 3, p. 163, doi. 10.1515/jbcpp-2013-0108
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- Publication type:
- Article
Advances in genetic diagnostics for hereditary hearing loss.
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- Journal of Basic & Clinical Physiology & Pharmacology, 2013, v. 24, n. 3, p. 165, doi. 10.1515/jbcpp-2013-0063
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- Article
A "Tric" to tighten cell-cell junctions in the cochlea for hearing.
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- Journal of Clinical Investigation, 2013, v. 123, n. 9, p. 3712, doi. 10.1172/JCI69651
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- Article
Cytoplasmic Mislocalization of POU3 F4 Due to Novel Mutations Leads to Deafness in Humans and Mice.
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- Human Mutation, 2013, v. 34, n. 8, p. 1102, doi. 10.1002/humu.22339
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- Article
The LINC complex is essential for hearing.
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- Journal of Clinical Investigation, 2013, v. 123, n. 2, p. 740, doi. 10.1172/JCI66911
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- Article
Egr2::Cre Mediated Conditional Ablation of Dicer Disrupts Histogenesis of Mammalian Central Auditory Nuclei.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049503
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- Article
microRNAs: the art of silencing in the ear.
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- EMBO Molecular Medicine, 2012, v. 4, n. 9, p. 849, doi. 10.1002/emmm.201100922
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- Article
Genomic advances for gene discovery in hereditary hearing loss.
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- Journal of Basic & Clinical Physiology & Pharmacology, 2012, v. 23, n. 3, p. 93, doi. 10.1515/jbcpp-2012-0033
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- Publication type:
- Article
High-throughput sequencing to decipher the genetic heterogeneity of deafness.
- Published in:
- Genome Biology, 2012, v. 13, n. 5, p. 245, doi. 10.1186/gb-2012-13-5-245
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- Article
Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations.
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- Cellular Physiology & Biochemistry (Karger AG), 2011, v. 28, n. 3, p. 477, doi. 10.1159/000335109
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- Article
Integration of Human and Mouse Genetics Reveals Pendrin Function in Hearing and Deafness.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2011, v. 28, n. 3, p. 535, doi. 10.1159/000335163
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- Article
Integration of Transcriptomics, Proteomics, and MicroRNA Analyses Reveals Novel MicroRNA Regulation of Targets in the Mammalian Inner Ear.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018195
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- Article
THE Contribution OF Genetics TO Hearing Impairment.
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- Audiology Today, 2011, v. 23, n. 2, p. 20
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- Article
The Contribution of Genetics to Hearing Impairment.
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- 2011
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- Publication type:
- Journal Article
SPIKE: a database of highly curated human signaling pathways.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. suppl_1, p. D793, doi. 10.1093/nar/gkq1167
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- Article
Hearing loss: a common disorder caused by many rare alleles.
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- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 168, doi. 10.1111/j.1749-6632.2010.05868.x
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- Publication type:
- Article
MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.
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- Nucleic Acids Research, 2010, v. 38, n. 21, p. 7869, doi. 10.1093/nar/gkq1208
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- Publication type:
- Article
Collaborative genomics for human health and cooperation in the Mediterranean region.
- Published in:
- Nature Genetics, 2010, v. 42, n. 8, p. 641, doi. 10.1038/ng0810-641
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- Publication type:
- Article
MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. suppl_2, p. W523, doi. 10.1093/nar/gkq528
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- Publication type:
- Article
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 407, doi. 10.1038/ejhg.2009.190
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- Article
MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness.
- Published in:
- Mammalian Genome, 2009, v. 20, n. 9/10, p. 581, doi. 10.1007/s00335-009-9230-5
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- Publication type:
- Article