Found: 15
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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
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
MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-023-01786-3
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- 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
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
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
- Published in:
- Neural Plasticity, 2020, p. 1, doi. 10.1155/2020/6137083
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- 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
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- 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
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- 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
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- Article
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
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- 2013
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- Publication type:
- journal article
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.825082
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- Publication type:
- Article
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
- Published in:
- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/5370802
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- Publication type:
- Article
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2357, doi. 10.1002/ajmg.a.37206
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- Publication type:
- Article
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2103
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- Publication type:
- Article
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124757
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- Publication type:
- Article