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Publications by Klemens Frei

Whole-Exome Sequencing to Identify the Cause of Congenital Sensorineural Hearing Loss in Carriers of a Heterozygous GJB2 Mutation

European Archives of Oto-Rhino-Laryngology

Otorhinolaryngology

English

Phenotypic Variability of Patients Homozygous for the GJB2 Mutation 35delG Cannot Be Explained by the Influence of One Major Modifier Gene

European Journal of Human Genetics

English

Related publications

Congenital Cytomegalovirus Infection: A Cause of Sensorineural Hearing Loss.

Archives of Disease in Childhood

English

A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing

Molecular genetics & genomic medicine

Molecular Biology

English

Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

BMC Medical Genetics

English

Congenital Cytomegalovirus Infection and Sensorineural Hearing Loss

Practica Otologica, Supplement

Otorhinolaryngology

English

Labyrinthine Window Rupture as a Cause of Acute Sensorineural Hearing Loss

European Archives of Oto-Rhino-Laryngology

Otorhinolaryngology

English

Sensorineural Hearing Loss Associated With Mitochondrial DNA Mutation

AUDIOLOGY JAPAN

English

Using Whole-Exome Sequencing to Identify Variants Inherited From Mosaic Parents

European Journal of Human Genetics

English

Congenital Sensorineural Hearing Loss- A Radiological (CT and MRI) Study

Tropical Journal of Ophthalmology and Otolaryngology

English

Sensorineural Hearing Loss

Otology and Neurotology

Otorhinolaryngology

Sensory Systems

English