Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Disease and MYO15A[original query] |
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| Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
| Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
| Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iranian journal of basic medical sciences 2016 Jul 19 (7): 772-8. Reiisi Somayeh, Tabatabaiefar Mohammad Amin, Sanati Mohammad Hosein, Chaleshtori Morteza Hashemzad |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations. Human molecular genetics 2018 Mar . Lamontagne Maxime, Bérubé Jean-Christophe, Obeidat Ma'en, Cho Michael H, Hobbs Brian D, Sakornsakolpat Phuwanat, de Jong Kim, Boezen H Marike, , Nickle David, Hao Ke, Timens Wim, van den Berge Maarten, Joubert Philippe, Laviolette Michel, Sin Don D, Paré Peter D, Bossé Yoh |
| Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan. PloS one 2019 1 14 (1): e0211261. Liu Wei-Hsiu, Chang Pi-Yueh, Chang Shih-Cheng, Lu Jang-Jih, Wu Che-Mi |
| Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
| Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Scientific reports 2021 11 11 (1): 22488. Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Danie |
| CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome. Circulation. Genomic and precision medicine 2022 2 15 (2): e003523. Theis Jeanne L, Niaz Talha, Sundsbak Rhianna S, Fogarty Zachary C, Bamlet William R, Hagler Donald J, Olson Timothy |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| Rare sequence variants associated with the risk of non-syndromic biliary atresia. Hepatology research : the official journal of the Japan Society of Hepatology 2023 7 . Satoshi Tamaoka, Akinari Fukuda, Kazuhiko Nakabayashi, Keiko Matsubara, Hiroko Ogata-Kawata, Yuki Muranishi, Kenichiro Hata, Yuko Kato-Fukui, Seisuke Sakamoto, Mureo Kasahara, Maki Fuka |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
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