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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Deafness and OTOA[original query]
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Genetic testing and molecular biomarkers 2014 Sep 18 (9): 658-61.
Bademci Guney, Diaz-Horta Oscar, Guo Shengru, Duman Duygu, Van Booven Derek, Foster Joseph, Cengiz Filiz Basak, Blanton Susan, Tekin Musta
Copy number variants are a common cause of non-syndromic hearing loss.
Genome medicine 2014 6 (5): 37.
Shearer A Eliot, Kolbe Diana L, Azaiez Hela, Sloan Christina M, Frees Kathy L, Weaver Amy E, Clark Erika T, Nishimura Carla J, Black-Ziegelbein E Ann, Smith Richard J
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
Molecular genetics & genomic medicine 2015 May 3 (3): 189-96.
Ammar-Khodja Fatima, Bonnet Crystel, Dahmani Malika, Ouhab Sofiane, Lefèvre Gaelle M, Ibrahim Hassina, Hardelin Jean-Pierre, Weil Dominique, Louha Malek, Petit Christi
Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.
Clinical genetics 2017 11 93 (4): 899-904.
He L, Pang X, Liu H, Chai Y, Wu H, Yang
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
Scientific reports 2020 7 10 (1): 11902.
Ramzan Memoona, Bashir Rasheeda, Salman Midhat, Mujtaba Ghulam, Sobreira Nara, Witmer P Dane, , Naz Sad
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Molecular genetics & genomic medicine 2020 Oct e1539.
Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H
Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions.
European journal of human genetics : EJHG 2021 3 29 (8): 1292-1300.
Maya Idit, Basel-Salmon Lina, Sagi-Dain Le
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
Gene 2022 2 819 146258.
Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi
Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients.
Iranian journal of public health 2024 6 53 (2): 453-461.
Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorif
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
BMC medical genomics 2024 1 17 (1): 32.
Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yu
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