PMC Articles for MedGen (Select 501251) - PMC

Select item 101285591.

赵质彬, 祝园平, 符一飞, 姜鸿彦

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002

PMCID:: PMC10128559

Abstract Article PDF–763K

Select item 97400952.

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov

Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372

PMCID:: PMC9740095

Abstract Article PDF–2.1M

Select item 97018743.

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss

Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu

J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708

PMCID:: PMC9701874

Abstract Article PDF–2.0M

Select item 72203924.

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4

Masato Fujioka, Takumi Akiyama, Makoto Hosoya, Kayoko Kikuchi, Yuto Fujiki, Yasuko Saito, Keisuke Yoshihama, Hiroyuki Ozawa, Keita Tsukada, Shin-ya Nishio, Shin-ichi Usami, Tatsuo Matsunaga, Tomonobu Hasegawa, Yasunori Sato, Kaoru Ogawa

Medicine (Baltimore) 2020 May; 99(19): e19763. Published online 2020 May 8. doi: 10.1097/MD.0000000000019763

PMCID:: PMC7220392

Abstract Article PDF–360K

Select item 43022465.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

B Vona, MAH Hofrichter, C Neuner, J Schröder, A Gehrig, JB Hennermann, F Kraus, W Shehata-Dieler, E Klopocki, I Nanda, T Haaf

Clin Genet. 2015 Jan; 87(1): 49–55. Published online 2014 Jan 21. doi: 10.1111/cge.12332

PMCID:: PMC4302246

Abstract Article PDF–1.5M

Select item 41765066.

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction

Hiroshi Nakanishi, Kiyoto Kurima, Yoshiyuki Kawashima, Andrew J. Griffith

Auris Nasus Larynx. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Auris Nasus Larynx. 2014 Oct; 41(5): 399–408. Published online 2014 Jun 2. doi: 10.1016/j.anl.2014.04.001

PMCID:: PMC4176506

Abstract Article PDF–211K

Select item 40207657.

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Yali Zhao, Dayong Wang, Liang Zong, Feifan Zhao, Liping Guan, Peng Zhang, Wei Shi, Lan Lan, Hongyang Wang, Qian Li, Bing Han, Ling Yang, Xin Jin, Jian Wang, Jun Wang, Qiuju Wang

PLoS One. 2014; 9(5): e97064. Published online 2014 May 14. doi: 10.1371/journal.pone.0097064

PMCID:: PMC4020765

Abstract Article PDF–2.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity