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Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03338-z
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- Publication type:
- Article
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
- Published in:
- Human Genetics, 2009, v. 125, n. 1, p. 53, doi. 10.1007/s00439-008-0602-9
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- Publication type:
- Article
Sheathless acoustic based flow cell sorter for enrichment of rare cells.
- Published in:
- Cytometry. Part A, 2022, v. 101, n. 4, p. 311, doi. 10.1002/cyto.a.24521
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- Publication type:
- Article
A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.
- Published in:
- 2023
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- Publication type:
- Letter
Mathematical experience in game‐based problem‐solving.
- Published in:
- Journal of Computer Assisted Learning, 2024, v. 40, n. 3, p. 1083, doi. 10.1111/jcal.12938
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- Publication type:
- Article
Maximizing learning without sacrificing the fun: Stealth assessment, adaptivity and learning supports in educational games.
- Published in:
- Journal of Computer Assisted Learning, 2021, v. 37, n. 1, p. 127, doi. 10.1111/jcal.12473
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- Publication type:
- Article
Hearing Loss in Mitochondrial Disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1042, n. 1, p. 36, doi. 10.1196/annals.1338.004
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- Publication type:
- Article
Engaging the consumer in disinvestment in public healthcare: Concerns, perspectives and attitudes of older adults.
- Published in:
- Journal of Evaluation in Clinical Practice, 2023, v. 29, n. 2, p. 320, doi. 10.1111/jep.13769
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- Publication type:
- Article
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 64, doi. 10.1038/jhg.2010.147
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- Publication type:
- Article
The genetic bases for non-syndromic hearing loss among Chinese.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 3, p. 131, doi. 10.1038/jhg.2009.4
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- Publication type:
- Article
Disinvestment in the presence of uncertainty: Description of a novel, multi-group, disinvestment trial design and protocol for an application to reduce or cease use of mobilisation alarms for preventing falls in hospitals.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0261793
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- Publication type:
- Article
The Effects of Dysphonic Voice on Speech Intelligibility in Cantonese-Speaking Adults.
- Published in:
- Journal of Speech, Language & Hearing Research, 2021, v. 64, n. 1, p. 16, doi. 10.1044/2020_JSLHR-19-00190
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- Publication type:
- Article
Indicators of Dysphagia in Aged Care Facilities.
- Published in:
- Journal of Speech, Language & Hearing Research, 2017, v. 60, n. 9, p. 2416, doi. 10.1044/2017_JSLHR-S-17-0028
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- Publication type:
- Article
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0630-9
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- Publication type:
- Article
A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0396-5
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- Publication type:
- Article
A capture‐based method of prenatal cell‐free DNA screening for autosomal recessive non‐syndromic hearing loss.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1043, doi. 10.1002/pd.6550
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- Publication type:
- Article
Improving teaching practices via virtual reality‐supported simulation‐based learning: Scenario design and the duration of implementation.
- Published in:
- British Journal of Educational Technology, 2023, v. 54, n. 4, p. 836, doi. 10.1111/bjet.13296
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- Publication type:
- Article
Computer-Aided Three-Dimensional Reconstruction and Measurement of the Optic Canal and Intracanalicular Structures.
- Published in:
- Laryngoscope, 1999, v. 109, n. 9, p. 1499, doi. 10.1097/00005537-199909000-00026
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- Publication type:
- Article
Fast CU Partition Decision Algorithm for VVC Intra Coding Using an MET-CNN.
- Published in:
- Electronics (2079-9292), 2022, v. 11, n. 19, p. 3090, doi. 10.3390/electronics11193090
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- Publication type:
- Article
A Complexity Reduction Method for VVC Intra Prediction Based on Statistical Analysis and SAE-CNN.
- Published in:
- Electronics (2079-9292), 2021, v. 10, n. 24, p. 3112, doi. 10.3390/electronics10243112
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- Publication type:
- Article
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/4707315
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- Publication type:
- Article
The use and effects of whole‐body exercises on swallowing function: A scoping review.
- Published in:
- International Journal of Language & Communication Disorders, 2023, v. 58, n. 4, p. 1357, doi. 10.1111/1460-6984.12858
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- Publication type:
- Article
Mutation spectra and founder effect of <italic>TMC1</italic> in patients with non‐syndromic deafness in Xiamen area, China.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 3, p. 301, doi. 10.1002/ajmg.b.32603
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- Publication type:
- Article
Evolutionary origin of pathogenic GJB2 alleles in China.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 4, p. 305, doi. 10.1111/cge.14191
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- Publication type:
- Article
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01368-9
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- Publication type:
- Article
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
- Published in:
- Bioscience Reports, 2021, v. 41, n. 6, p. 1, doi. 10.1042/BSR20203740
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- Publication type:
- Article
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss.
- Published in:
- Bioscience Reports, 2019, v. 39, n. 3, p. 1, doi. 10.1042/BSR20182241
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- Publication type:
- Article
Outcomes of cochlear implantation in 75 patients with auditory neuropathy.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1281884
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- Publication type:
- Article
Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.
- Published in:
- Neural Plasticity, 2020, p. 1, doi. 10.1155/2020/8841522
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- Publication type:
- Article
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct
- Published in:
- Otolaryngology-Head & Neck Surgery, 2009, v. 141, n. 4, p. 502, doi. 10.1016/j.otohns.2009.07.004
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- Publication type:
- Article
R106: SLC26A4 Mutations in SNHL with EVA in a Chinese Population
- Published in:
- 2007
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- Publication type:
- Abstract
10:40: Molecular Diagnostic Strategies of EVAS in China and U.S.
- Published in:
- 2007
- By:
- Publication type:
- Abstract
Identifying Public Healthcare Priorities in Virtual Care for Older Adults: A Participatory Research Study.
- Published in:
- International Journal of Environmental Research & Public Health, 2023, v. 20, n. 5, p. 4015, doi. 10.3390/ijerph20054015
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- Publication type:
- Article
Sequential Bilateral Cochlear Implantation in a Child with Severe External, Middle, and Inner Ear Malformations: Surgical Considerations and Practical Aspects.
- Published in:
- ORL, 2021, v. 83, n. 6, p. 471, doi. 10.1159/000515179
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- Publication type:
- Article
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/6370386
- By:
- Publication type:
- Article
Using Mathematizing Supports for Applied Problem Solving in a Game-Based Learning Environment.
- Published in:
- Journal of Educational Computing Research, 2024, v. 62, n. 2, p. 468, doi. 10.1177/07356331231206990
- By:
- Publication type:
- Article
Patterns of Using Multimodal External Representations in Digital Game-Based Learning.
- Published in:
- Journal of Educational Computing Research, 2023, v. 60, n. 8, p. 1918, doi. 10.1177/07356331221087771
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- Publication type:
- Article
KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0108134
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- Publication type:
- Article
Novel Compound Heterozygous Mutations in <i>MYO7A</i> Associated with Usher Syndrome 1 in a Chinese Family.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0103415
- By:
- Publication type:
- Article
A Novel Mutation in the <i>TECTA</i> Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089240
- By:
- Publication type:
- Article
Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077149
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- Publication type:
- Article
Identification of a Novel <i>TECTA</i> Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070134
- By:
- Publication type:
- Article
Novel Compound Heterozygous <i>TMC1</i> Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063026
- By:
- Publication type:
- Article
Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049984
- By:
- Publication type:
- Article
Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairment.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030720
- By:
- Publication type:
- Article
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
- Published in:
- Neural Plasticity, 2017, p. 1, doi. 10.1155/2017/3192090
- By:
- Publication type:
- Article
Analysis of revision and reimplantation of cochlear implantations in 45 cases.
- Published in:
- Clinical Otolaryngology, 2019, v. 44, n. 6, p. 1109, doi. 10.1111/coa.13406
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- Publication type:
- Article
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.
- Published in:
- Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0483-3
- By:
- Publication type:
- Article
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
- Published in:
- Journal of Translational Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1479-5876-11-284
- By:
- Publication type:
- Article
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
- Published in:
- 2013
- By:
- Publication type:
- journal article