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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 14 (of 14 Records)

Query Trace: Deafness and STRC[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
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
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400.
Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E
Phenotypic Characterization of DFNB16-associated Hearing Loss.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 12 40 (1): e48-e55.
Back Daniela, Shehata-Dieler Wafaa, Vona Barbara, Hofrichter Michaela A H, Schroeder Joerg, Haaf Thomas, Rahne Torsten, Hagen Rudolf, Schraven Sebastian
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar .
Kim Bong Jik, Oh Doo-Yi, Han Jin Hee, Oh Jayoung, Kim Min Young, Park Hye-Rim, Seok Jungirl, Cho Sung-Dong, Lee Sang-Yeon, Kim Yoonjoong, Carandang Marge, Kwon In Sun, Lee Seungmin, Jang Jeong Hun, Choung Yun-Hoon, Lee Sejoon, Lee Hakmin, Hwang Sang Mee, Choi Byung Yo
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Orphanet journal of rare diseases 2020 Jan 15 (1): 29.
Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu 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
Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis.
Frontiers in genetics 2021 10 12 707845.
Han Shuang, Zhang Dejun, Guo Yingyuan, Fu Zeming, Guan Guofa
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Orphanet journal of rare diseases 2022 3 17 (1): 114.
Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
International journal of molecular sciences 2022 12 23 (24): .
Shatokhina Olga, Galeeva Nailya, Stepanova Anna, Markova Tatiana, Lalayants Maria, Alekseeva Natalia, Tavarkiladze George, Markova Tatiana, Bessonova Liudmila, Petukhova Marina, Guseva Daria, Anisimova Inga, Polyakov Alexander, Ryzhkova Oxana, Bliznetz Ele
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
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Scientific reports 2022 1 12 (1): 634.
Nishio Shin-Ya, Usami Shin-Ic
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Genes 2023 1 14 (1): .
Clabout Thomas, Maes Laurence, Acke Frederic, Wuyts Wim, Van Schil Kristof, Coucke Paul, Janssens Sandra, De Leenheer E
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