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Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness
Wang, Yanfei, Lu, Yu, Cheng, Jing, Zhang, Lei, Han, Dongyi, Yuan, Huijun
Published in Acta oto-laryngologica (03.10.2018)
Published in Acta oto-laryngologica (03.10.2018)
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Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
Yuan, Huijun, Zhang, Hua, Zhao, Qi, Zhao, Juan, Cheng, Jing, Kuyaxi, Pilidong, Lu, Yu, Chen, Yu, Musha, Patiguli
Published in Disease markers (01.01.2018)
Published in Disease markers (01.01.2018)
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Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss
Sakuma, Naoko, Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Takahashi, Masahiro, Arai, Yasuhiro, Shearer, A Eliot, Sloan, Christina M, Nishio, Shin-Ya, Kolbe, Diana L, Iwasaki, Satoshi, Oridate, Nobuhiko, Smith, Richard J H, Usami, Shin-Ichi
Published in Annals of otology, rhinology & laryngology (01.05.2015)
Published in Annals of otology, rhinology & laryngology (01.05.2015)
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Techniques for fine grained correction of count bias in massively parallel DNA sequencing
Year of Publication 21.09.2021
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Techniques for fine grained correction of count bias in massively parallel DNA sequencing
Year of Publication 27.09.2017
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UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas
Wong, Stephen Q., Waldeck, Kelly, Vergara, Ismael A., Schröder, Jan, Madore, Jason, Wilmott, James S., Colebatch, Andrew J., De Paoli-Iseppi, Ricardo, Li, Jason, Lupat, Richard, Semple, Timothy, Arnau, Gisela Mir, Fellowes, Andrew, Leonard, J. Helen, Hruby, George, Mann, Graham J., Thompson, John F., Cullinane, Carleen, Johnston, Meredith, Shackleton, Mark, Sandhu, Shahneen, Bowtell, David D.L., Johnstone, Ricky W., Fox, Stephen B., McArthur, Grant A., Papenfuss, Anthony T., Scolyer, Richard A., Gill, Anthony J., Hicks, Rodney J., Tothill, Richard W.
Published in Cancer research (Chicago, Ill.) (15.12.2015)
Published in Cancer research (Chicago, Ill.) (15.12.2015)
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Species-level bacterial community profiling of the healthy sinonasal microbiome using Pacific Biosciences sequencing of full-length 16S rRNA genes
Earl, Joshua P., Adappa, Nithin D., Krol, Jaroslaw, Bhat, Archana S., Balashov, Sergey, Ehrlich, Rachel L., Palmer, James N., Workman, Alan D., Blasetti, Mariel, Sen, Bhaswati, Hammond, Jocelyn, Cohen, Noam A., Ehrlich, Garth D., Mell, Joshua Chang
Published in Microbiome (23.10.2018)
Published in Microbiome (23.10.2018)
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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I., García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A., Elgoyhen, Ana B., del Castillo, Francisco J., Dalamón, Viviana, del Castillo, Ignacio
Published in Biomedicines (31.10.2023)
Published in Biomedicines (31.10.2023)
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An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis
Sakuma, Naoko, Moteki, Hideaki, Takahashi, Masahiro, Nishio, Shin-ya, Arai, Yasuhiro, Yamashita, Yukiko, Oridate, Nobuhiko, Usami, Shin-ichi
Published in Journal of human genetics (01.03.2016)
Published in Journal of human genetics (01.03.2016)
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Microbial diversity in saliva of oral squamous cell carcinoma
Pushalkar, Smruti, Mane, Shrinivasrao P, Ji, Xiaojie, Li, Yihong, Evans, Clive, Crasta, Oswald R, Morse, Douglas, Meagher, Robert, Singh, Anup, Saxena, Deepak
Published in FEMS immunology and medical microbiology (01.04.2011)
Published in FEMS immunology and medical microbiology (01.04.2011)
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CHD7 Targets Active Gene Enhancer Elements to Modulate ES Cell-Specific Gene Expression
Schnetz, Michael P., Handoko, Lusy, Akhtar-Zaidi, Batool, Bartels, Cynthia F., Pereira, C. Filipe, Fisher, Amanda G., Adams, David J., Flicek, Paul, Crawford, Gregory E., LaFramboise, Thomas, Tesar, Paul, Wei, Chia-Lin, Scacheri, Peter C.
Published in PLoS genetics (01.07.2010)
Published in PLoS genetics (01.07.2010)
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Inter-Individual Differences in the Oral Bacteriome Are Greater than Intra-Day Fluctuations in Individuals
Sato, Yukuto, Yamagishi, Junya, Yamashita, Riu, Shinozaki, Natsuko, Ye, Bin, Yamada, Takuji, Yamamoto, Masayuki, Nagasaki, Masao, Tsuboi, Akito
Published in PloS one (29.06.2015)
Published in PloS one (29.06.2015)
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CHD7 Targets Active Gene Enhancer Elements to Modulate ES Cell-Specific Gene Expression: e1001023
Schnetz, Michael P, Handoko, Lusy, Akhtar-Zaidi, Batool, Bartels, Cynthia F, Pereira, C Filipe, Fisher, Amanda G, Adams, David J, Flicek, Paul, Crawford, Gregory E, LaFramboise, Thomas, Tesar, Paul, Wei, Chia-Lin, Scacheri, Peter C
Published in PLoS genetics (01.07.2010)
Published in PLoS genetics (01.07.2010)
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Inter-Individual Differences in the Oral Bacteriome Are Greater than Intra-Day Fluctuations in Individuals: e0131607
Sato, Yukuto, Yamagishi, Junya, Yamashita, Riu, Shinozaki, Natsuko, Ye, Bin, Yamada, Takuji, Yamamoto, Masayuki, Nagasaki, Masao, Tsuboi, Akito
Published in PloS one (01.06.2015)
Published in PloS one (01.06.2015)
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Species-level bacterial community profiling of the healthy sinonasal microbiome using Pacific Biosciences sequencing of full-length 16S rRNA genes
Earl, Joshua P, Adappa, Nithin D, Krol, Jaroslaw, Bhat, Archana S, Balashov, Sergey, Ehrlich, Rachel L, Palmer, James N, Workman, Alan D, Blasetti, Mariel, Sen, Bhaswati, Hammond, Jocelyn, Cohen, Noam A, Ehrlich, Garth D, Mell, Joshua C
Published in bioRxiv (30.08.2018)
Published in bioRxiv (30.08.2018)
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