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Human Mutation|July 12, 2002
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairmentGuy Van Camp, Paul J Coucke, Jiro Akita, et al.
Human Genetics|July 7, 2021
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin coresTakushi Miyoshi, Inna A Belyantseva, Shin-Ichiro Kitajiri, et al.
Oncology|January 18, 2022
Factors Affecting Nivolumab Therapy Outcome in Patients with Head and Neck Cancer: A Single-Center AnalysisYoh-Ichiro Iwasa, Yoh Yokota, Ryosuke Kitoh, et al.
The Annals of Otology, Rhinology, and Laryngology|March 20, 2015
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutationHideaki Moteki, Hela Azaiez, Kevin T Booth, et al.
Auris, Nasus, Larynx|January 8, 2016
Prognostic impact of salvage treatment on hearing recovery in patients with sudden sensorineural hearing loss refractory to systemic corticosteroids: A retrospective observational studyTakayuki Nakagawa, Michio Yamamoto, Kozo Kumakawa, et al.
EMBO Molecular Medicine|October 7, 2016
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing lossTakehiko Ueyama, Yuzuru Ninoyu, Shin-Ya Nishio, et al.
Medicine|May 9, 2020
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4Masato Fujioka, Takumi Akiyama, Makoto Hosoya, et al.
American Journal of Human Genetics|August 16, 2006
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 geneGuy Van Camp, Rikkert L Snoeckx, Nele Hilgert, et al.
Genes|September 19, 2019
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing LossKenjiro Sugiyama, Hideaki Moteki, Shin-Ichiro Kitajiri, et al.
Scientific Reports|April 29, 2020
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing lossHiroki Miyajima, Hideaki Moteki, Timothy Day, et al.
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