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Academic Journal

The clinical and genetic characteristics of maternally inherited diabetes and deafness (MIDD) with mitochondrial m.3243A > G mutation: A 10‐year follow‐up observation study and literature review.

Subjects: *LITERATURE reviews; *DEAFNESS; *MITOCHONDRIAL DNA

  • Source: Clinical Case Reports. Feb2024, Vol. 12 Issue 2, p1-9. 9p.

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Academic Journal

Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Subjects: *HEARING disorders; *DEAFNESS; *RUSSIANSRUSSIA

  • Source: International Journal of Molecular Sciences. Dec2022, Vol. 23 Issue 24, p15748. 12p.

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Academic Journal

Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology.

Subjects: *DEAFNESS; *COMPUTATIONAL biology; *BONE conductionUNITED States

  • Source: Audiology Research. 2019, Vol. 9 Issue 2, p27-32. 6p.

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Academic Journal

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Subjects: *GENETICS of deafness; *DEAFNESS; *DEAF people

  • Source: Acta Oto-Laryngologica. Apr2008, Vol. 128 Issue 4, p446-454. 9p. 3 Diagrams, 1 Chart.

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Academic Journal

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

Subjects: *DEAFNESS; *GENES; *HUMAN chromosome abnormality diagnosisCHINA

  • Source: Acta Oto-Laryngologica. Mar2008, Vol. 128 Issue 3, p297-303. 7p. 3 Charts, 2 Graphs.

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Academic Journal

Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients.

Subjects: *DEAFNESS; *EXONS (Genetics); *NUCLEOTIDE sequence

  • Source: PLoS ONE. Aug2013, Vol. 8 Issue 8, p1-11. 11p.

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Academic Journal

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.

Subjects: *HEARING disorders; *DEAFNESS; *HUMAN chromosome abnormality diagnosis

  • Source: Acta Oto-Laryngologica. Jan2007, Vol. 127 Issue 1, p98-104. 7p. 5 Diagrams.

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Academic Journal

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.

Subjects: *DEAFNESS; *MITOCHONDRIAL RNA; *RIBOSOMAL RNA

  • Source: BMC Genetics. 2014, Vol. 15 Issue 1, p1-16. 16p.

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Academic Journal

Clinical and Demographic Characteristics of Patients with Urinary Tract Hydatid Disease.

Subjects: *GENETIC mutation; *DEAFNESS; *GENETIC testingCHINA

  • Source: PLoS ONE. Nov2012, Vol. 7 Issue 11, Special section p1-6. 6p.

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Academic Journal

Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes.

Subjects: *DEAFNESS; *SENSORY disorders; *MOLECULAR diagnosisJAPAN

  • Source: Genetic Testing & Molecular Biomarkers. Apr2015, Vol. 19 Issue 4, p209-217. 9p.

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  • 1-10 of  330 results for ""Deafness""