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MeSH:(Hearing Loss, Sensorineural/*genetics/*pathology)

2.Etiology of Hearing Loss and Genetic Hearing Loss.

So Young KIM ; Byung Yoon CHOI

Hanyang Medical Reviews 2015;35(2):66-71

3.Molecular mechanisms underlying function of hair bundle: study on genetic deafness in mouse models.

Ling-Zhi LIANG ; Bin-Jiao ZHENG ; Jing ZHENG ; Fang FANG ; Yue WU ; Min-Xin GUAN

Acta Physiologica Sinica 2012;64(4):481-488

4.Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites.

Dong SU ; Fan LOU ; Rui HUANG ; Xia LI ; Ken LIN ; Guo LI ; Jing MA

Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2023;37(11):909-915

5.Report of a case with Johanson-Blizzard syndrome and literatures review.

Zhi-Feng LIU ; Zhi-Hua ZHANG ; Mei LI ; Yu JIN ; Min LIAN ; Wen-Wei TANG

Chinese Journal of Pediatrics 2011;49(1):66-69

6.Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome.

Yu-mei LIU ; Xin-jing GAO ; Xin TIAN ; Xue-mei LI ; Xi-bao ZHANG

Chinese Journal of Medical Genetics 2013;30(2):203-206

7.The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation.

Chong Kun CHEON ; Gu Hwan KIM ; Han Wook YOO

Yonsei Medical Journal 2015;56(1):300-303

8.Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene.

Qi LI ; De-liang HUANG ; Qing-wen ZHU ; Yong-yi YUAN ; Ru-ping FANG ; Pu DAI

Chinese Journal of Medical Genetics 2010;27(6):610-615

9.Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.

Je Moon YOON ; Mi Ae JANG ; Chang Seok KI ; Sang Jin KIM

Annals of Laboratory Medicine 2016;36(2):166-169

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