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The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 709, doi. 10.1007/s00439-022-02448-7
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- Article
The hearing-impaired patient: what the future holds.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 307, doi. 10.1007/s00439-022-02447-8
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- Article
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 519, doi. 10.1007/s00439-021-02372-2
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- Article
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 759, doi. 10.1007/s00439-022-02446-9
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- Article
Editorial to the Special Issue on "The molecular genetics of hearing and deafness".
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- 2022
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- Publication type:
- Editorial
Advancing discovery in hearing research via biologist-friendly access to multi-omic data.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 319, doi. 10.1007/s00439-022-02445-w
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- Article
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 431, doi. 10.1007/s00439-022-02444-x
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- Article
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 445, doi. 10.1007/s00439-022-02443-y
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- Publication type:
- Article
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 903, doi. 10.1007/s00439-022-02431-2
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- Publication type:
- Article
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 401, doi. 10.1007/s00439-022-02440-1
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- Publication type:
- Article
Genetic etiology of non-syndromic hearing loss in Europe.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 683, doi. 10.1007/s00439-021-02425-6
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- Publication type:
- Article
Genetic etiology of hearing loss in Iran.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 623, doi. 10.1007/s00439-021-02421-w
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- Publication type:
- Article
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 877, doi. 10.1007/s00439-021-02424-7
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- Publication type:
- Article
Correction to: Genetic etiology of non-syndromic hearing loss in Latin America.
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- 2022
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- Correction Notice
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 697, doi. 10.1007/s00439-021-02405-w
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- Publication type:
- Article
Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Published in:
- 2022
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- Publication type:
- Correction Notice
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 965, doi. 10.1007/s00439-021-02381-1
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- Publication type:
- Article
Hearing loss in Africa: current genetic profile.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 505, doi. 10.1007/s00439-021-02376-y
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- Article
Novel gene discovery for hearing loss and other routes to increased diagnostic rates.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 383, doi. 10.1007/s00439-021-02374-0
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- Article
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 665, doi. 10.1007/s00439-021-02371-3
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- Publication type:
- Article
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 889, doi. 10.1007/s00439-021-02368-y
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- Publication type:
- Article
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 915, doi. 10.1007/s00439-021-02367-z
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- Article
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 387, doi. 10.1007/s00439-021-02365-1
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- Publication type:
- Article
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 929, doi. 10.1007/s00439-021-02364-2
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- Article
Genetic hearing loss: the audiologist's perspective.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 311, doi. 10.1007/s00439-021-02360-6
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- Publication type:
- 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
Genetics of otosclerosis: finally catching up with other complex traits?
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- Human Genetics, 2022, v. 141, n. 3/4, p. 939, doi. 10.1007/s00439-021-02357-1
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- Publication type:
- Article
Genetic etiology of non-syndromic hearing loss in Latin America.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 539, doi. 10.1007/s00439-021-02354-4
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- Publication type:
- Article
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 865, doi. 10.1007/s00439-021-02351-7
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- Publication type:
- Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 853, doi. 10.1007/s00439-021-02340-w
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- Publication type:
- Article
Central auditory deficits associated with genetic forms of peripheral deafness.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 335, doi. 10.1007/s00439-021-02339-3
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- Article
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 495, doi. 10.1007/s00439-021-02338-4
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- Publication type:
- Article
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 465, doi. 10.1007/s00439-021-02336-6
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- Publication type:
- Article
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 485, doi. 10.1007/s00439-021-02335-7
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- Publication type:
- Article
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 951, doi. 10.1007/s00439-021-02334-8
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- Article
Genetic testing for pediatric hearing loss: no time to waste.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 315, doi. 10.1007/s00439-021-02333-9
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- Article
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 607, doi. 10.1007/s00439-021-02332-w
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- Publication type:
- Article
Genetic etiology of hearing loss in Russia.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 649, doi. 10.1007/s00439-021-02327-7
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- Publication type:
- Article
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 347, doi. 10.1007/s00439-021-02325-9
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- Publication type:
- Article
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 737, doi. 10.1007/s00439-021-02324-w
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- Publication type:
- Article
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 595, doi. 10.1007/s00439-021-02323-x
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- Publication type:
- Article
Molecular genetic landscape of hereditary hearing loss in Pakistan.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 633, doi. 10.1007/s00439-021-02320-0
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- Publication type:
- Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 805, doi. 10.1007/s00439-021-02319-7
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- Publication type:
- Article
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 981, doi. 10.1007/s00439-021-02317-9
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- Publication type:
- Article
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 583, doi. 10.1007/s00439-021-02314-y
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- Publication type:
- Article
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 455, doi. 10.1007/s00439-021-02311-1
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- Publication type:
- Article
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 821, doi. 10.1007/s00439-021-02310-2
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- Publication type:
- Article
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 413, doi. 10.1007/s00439-021-02309-9
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- Publication type:
- Article
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 363, doi. 10.1007/s00439-021-02304-0
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- Publication type:
- Article