4.6 Article

Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Editorial Material Public, Environmental & Occupational Health

Hearing loss grades and the International classification of functioning, disability and health

Bolajoko O. Olusanya et al.

BULLETIN OF THE WORLD HEALTH ORGANIZATION (2019)

Article Multidisciplinary Sciences

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Paul Avan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Article Biochemistry & Molecular Biology

The OTOGL p.Arg925*Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family

Rana Barake et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2017)

Article Medicine, General & Internal

Congenital hearing loss

Anna M. H. Korver et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Article Otorhinolaryngology

Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss

Xiaodong Gu et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2015)

Article Otorhinolaryngology

Economic management of vertigo/dizziness disease in a county hospital: video-head-impulse test vs. caloric irrigation

Holger A. Rambold

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2015)

Article Audiology & Speech-Language Pathology

Similar Phenotypes Caused by Mutations in OTOG and OTOGL

Anne M. M. Oonk et al.

EAR AND HEARING (2014)

Article Otorhinolaryngology

Caloric test and video-head-impulse: a study of vertigo/dizziness patients in a community hospital

Andrea Mahringer et al.

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2014)

Article Genetics & Heredity

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

Autosomal recessive nonsyndromic deafness genes: a review

Duygu Duman et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2012)

Article Genetics & Heredity

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

Hashem Shahin et al.

JOURNAL OF MEDICAL GENETICS (2010)

Review Medicine, Research & Experimental

Function and Expression Pattern of Nonsyndromic Deafness Genes

Nele Hilgert et al.

CURRENT MOLECULAR MEDICINE (2009)

Article Otorhinolaryngology

Diagnostics of the cochlear amplifier by means of distortion product otoacoustic emissions

Thomas Janssen et al.

ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES (2006)

Review Audiology & Speech-Language Pathology

Deafness genes and their diagnostic applications

K Cryns et al.

AUDIOLOGY AND NEURO-OTOLOGY (2004)

Article Genetics & Heredity

Targeted disruption of Otog results in deafness and severe imbalance

MC Simmler et al.

NATURE GENETICS (2000)