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- [21] Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4:: Evidence for correlation of normal cardiac phenotype mutations of the with truncating Eya domainAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (14) : 1592 - 1598Makishima, TomokoMadeo, Anne C.Brewer, Carmen C.Zalewski, Christopher K.Butman, John A.Sachdev, VandanaArai, Andrew E.Holbrook, Brenda M.Rosing, Douglas R.Griffith, Andrew J.
- [22] A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese familyHUMAN GENOMICS, 2024, 18 (01)Zhang, LupingZheng, DanyaXu, LianWang, HanZhang, ShuqiangShi, JianhuaJin, Nana
- [23] Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing LossPLOS ONE, 2015, 10 (03):Kim, Ye-RiKim, Min-ASagong, BorumBae, Seung-HyunLee, Hyo-JeongKim, Hyung-JongChoi, Jae YoungLee, Kyu-YupKim, Un-Kyung
- [24] Two Novel Missense Mutations in the TECTA Gene in Korean Families with Autosomal Dominant Nonsyndromic Hearing LossANNALS OF CLINICAL AND LABORATORY SCIENCE, 2010, 40 (04): : 380 - 385Sagong, BorumPark, RaekilKim, Yee HyukLee, Kyu-YupBaek, Jeong-InCho, Hyun-JooCho, In-JeeKim, Un-KyungLee, Sang-Heun
- [25] A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing lossANNALS OF HUMAN GENETICS, 2022, 86 (04) : 207 - 217Zhang, DejunWu, JieYuan, YongyiLi, XiaohongGao, XueHan, MingyuGao, SongHuang, ShashaDai, Pu
- [26] Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese FamilyANNALS OF HUMAN GENETICS, 2014, 78 (06) : 410 - 423Cheng, JingZhou, XueyaLu, YuChen, JingHan, BingZhu, YuhuaLiu, LiyangChoy, Kwong-WaiHan, DongyiSham, Pak C.Zhang, Michael Q.Zhang, XuegongYuan, Huijun
- [27] Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyJournal of Human Genetics, 2015, 60 : 119 - 126Honghan WangXinwei WangChufeng HeHaibo LiJie QingM'hamed GratiZhengmao HuJiada LiYiqiao HuKun XiaLingyun MeiXingwei WangJianjun YuHongsheng ChenLu JiangYalan LiuMeichao MenHailin ZhangLiping GuanJingjing XiaoJianguo ZhangXuezhong LiuYong Feng
- [28] Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyJOURNAL OF HUMAN GENETICS, 2015, 60 (03) : 119 - 126Wang, HonghanWang, XinweiHe, ChufengLi, HaiboQing, JieGrati, M'hamedHu, ZhengmaoLi, JiadaHu, YiqiaoXia, KunMei, LingyunWang, XingweiYu, JianjunChen, HongshengJiang, LuLiu, YalanMen, MeichaoZhang, HailinGuan, LipingXiao, JingjingZhang, JianguoLiu, XuezhongFeng, Yong
- [29] Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing LossJOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, 2024, 20 (02): : 119 - 126Markova, Tatiana G.Alekseeva, Natalia N.Ryzhkova, Oxana P.Shatokhina, Olga L.Orlova, Anna A.Zabnenkova, Viktoriia V.Groznova, Olga S.Sagaydak, Olesya V.Chibisova, Svetlana S.Polyakov, Alexander V.Tavartkiladze, George A.
- [30] Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing lossOTOLOGY & NEUROTOLOGY, 2008, 29 (05) : 601 - 606Bahmad, FayezO'Malley, JenniferTranebjaerg, LisbethMerchant, Saumil N.