Search Results - "next generation sequencing"

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period by Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI

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Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea by Seungbok Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Anna Cho

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Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province by Zhiwei Huang, Qingchan Yang, Jianxiang Ye, Jianxing Huang, Jin Lin, Jing Chen, Zizhao Liang, Zijie Cao

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Differential Gene Expression by RNA-Seq Analysis of the Primo Vessel in the Rabbit Lymph by Jun-Young Shin, Sang-Heon Choi, Da-Woon Choi, Ye-Jin An, Jae-Hyuk Seo, Jong-Gu Choi, Min-Suk Rho, Sang-Suk Lee

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EAGLE: Explicit Alternative Genome Likelihood Evaluator by Tony Kuo, Martin C. Frith, Jun Sese, Paul Horton

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Exploring the Kinh Vietnamese genomic database for the polymorphisms of the P450 genes towards precision public health by Diep Thi Hoang, Tran Van Hiep, Thao Thi Phuong Nguyen, Hoang Thi My Nhung, Kien Trung Tran, Le Sy Vinh

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Genetic Predisposition of Atherosclerotic Cardiovascular Disease in Ancient Human Remains by Christina Wurst, Frank Maixner, Alice Paladin, Alexandra Mussauer, Guido Valverde, Jagat Narula, Randall Thompson, Albert Zink

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Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation by Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan

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Laboratory assessment of the risks of malignant neoplasms of the mammary gland and ovaries by А. В. Шумицький, О. А. Бурка, І. В. Сідорова

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Molecular profiling of basal cell carcinomas in young patients by Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery, Roland Tomb

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A novel GIT2-BRAF fusion in pilocytic astrocytoma by Jeffrey Helgager, Hart G. Lidov, Navin R. Mahadevan, Mark W. Kieran, Keith L. Ligon, Sanda Alexandrescu

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A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree by Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li

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Inborn errors of immunity-recent advances in research on the pathogenesis by Motoi Yamashita, Kento Inoue, Tsubasa Okano, Tomohiro Morio

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Deciphering cross-species reactivity of LAMP-1 antibodies using deep mutational epitope mapping and AlphaFold by Tiphanie Pruvost, Magali Mathieu, Steven Dubois, Bernard Maillère, Emmanuelle Vigne, Hervé Nozach

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Genomic Landscape of Metastatic Lymph Nodes and Primary Tumors in Non-Small-Cell Lung Cancer by Bing Chen, Bing Chen, Rutao Li, Rutao Li, Junling Zhang, Lin Xu, Lin Xu, Feng Jiang, Feng Jiang

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Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency by Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang, Yu Hu

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A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa by Thomas Kocher, Johannes Bischof, Simone Alexandra Haas, Oliver Patrick March, Bernadette Liemberger, Stefan Hainzl, Julia Illmer, Anna Hoog, Katharina Muigg, Heide-Marie Binder, Alfred Klausegger, Dirk Strunk, Johann Wolfgang Bauer, Toni Cathomen, Ulrich Koller

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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10 by Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang

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The microbiome in urogenital schistosomiasis and induced bladder pathologies. by Adewale S Adebayo, Mangesh Vasant Suryavanshi, Shrikant Bhute, Atinuke M Agunloye, Raphael D Isokpehi, Chiaka I Anumudu, Yogesh S Shouche

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Case report on activated PI3K-delta syndrome by Israel E. Crisanto-López, Alan A. Pérez-Arzola, Yazmin Hernández-Castañeda, Reyna G. Carrasco-Trinidad, Aurea Vera-Loaiza, Berenice Jiménez-Pérez, Tania A. Guzmán-Santiago, Pablo O. Rodríguez-Hurtado, Wilbert Salazar-Bonilla, Daniela Juárez-Melchor

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