Nonsyndromic Hearing Loss Latest Advances

Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Journal: Genes & genomics

Published: October 23, 2024

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Journal: Frontiers in genetics

Published: October 08, 2024

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: The journal of international advanced otology

Published: August 19, 2024

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

Journal: Genetic testing and molecular biomarkers

Published: July 17, 2024

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.

Journal: BMC medical genomics

Published: July 16, 2024

Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.

Journal: Medicine

Published: April 19, 2024

A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss: Mutation in DIAPH1 causes hearing loss.

Journal: Gene

Published: April 17, 2024

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.

Journal: Cellular and molecular biology (Noisy-le-Grand, France)

Published: February 23, 2024

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

Journal: Human molecular genetics

Published: January 09, 2024

First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.

Journal: Annals of human genetics

Published: January 08, 2024

Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia.

Journal: Annals of human genetics

Published: December 07, 2023

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.

Journal: The Journal of molecular diagnostics : JMD

Published: November 07, 2023

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Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.

Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.

Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.

A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss: Mutation in DIAPH1 causes hearing loss.

A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss: Mutation in DIAPH1 causes hearing loss.

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.

First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.

Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia.

Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia.

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.