Search Results - "mutation"

Maturity-onset diabetes of the young due to gene mutation by Hae In Lee, Soon Sung Kwon, Myeongseob Lee, Su Jin Kim, Kyungchul Song, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim, Junghwan Suh

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Panfolliculoma in SUFU-mutated basal cell nevus syndrome by Areeba Abid, BS, Douglas Parker, MD, Travis W. Blalock, MD

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Pachyonychia congenita: Report of two cases and mutation analysis by Jia-Ming Yeh, Ching-Yuang Huang, Sheau-Chiou Chao

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Novel mutations in structural proteins of dengue virus genomes by Saira Mushtaq, Malik Ihsan Ullah Khan, Muhammad Tahir Khan, Madeeha Shahzad Lodhi, Dong Qing Wei

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A nonsense mutation in a family with congenital aniridia by Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong

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Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia by Blanco Francisco J, Garrido-Martin Eva M, Albiñana Virginia, García-Alegria Eva, Fernandez-L Africa, Fontalba Ana, Zarrabeitia Roberto, Perez-Molino Alfonso, Bernabeu-Herrero Maria E, Ojeda Maria-Luisa, Fernandez-Luna Jose L, Bernabeu Carmelo, Botella Luisa M

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Novel Mutation of Gene Observed in Congenital Chloride Diarrhea by Ji Hye Cheon, Na Li Yu, Na Mi Lee

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Alpha and beta-Thalassemia mutations in Hubei area of China by Yaowu Zhu, Na Shen, Xiong Wang, Juan Xiao, Yanjun Lu

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A Treatable Genetic Disease Caused by CAD Mutation by Xia Peng, Li-ping Xia, Hai-ju Zhang, Jing Zhang, Shi-qian Yu, Shun Wang, Yu-ming Xu, Baozhen Yao, Jingping Ye

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Mutations in FGFR3 gene associated with maxillary retrognathism by Ravi M Subrahmanya, Sreenivas V Prasad, Rajendra B Prasad, Subraya Mogra, Veena Shetty, Vamana Rao

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Sequencing for novel mutation screening in juvenile polyposis syndrome by Nattapon Khongcharoen, Wison Laochareonsuk, Pongsakorn Choochuen, Wanwisa Maneechay, Surasak Sangkhathat

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Discordant EGFR mutation results: A case report by Ullas Batra, Shrinidhi Nathany, Mansi Sharma, Surender Dhanda, Joslia T. Jose, Anurag Mehta

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The implication of mitochondrial DNA mutation and dysfunction in periodontal diseases by Balachander Kannan, Paramasivam Arumugam

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NDUFB8 mutation in a neonate with Leigh's disease by Senthil Kumar Arumugam, Venkatesan Manickam

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Stabilization of G protein-coupled receptors by point mutations by Franziska eHeydenreich, Franziska eHeydenreich, Ziva eVuckovic, Ziva eVuckovic, Milos eMatkovic, Milos eMatkovic, Dmitry eVeprintsev, Dmitry eVeprintsev

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A Novel Intragenic Mutation Associated With Congenital Hyperinsulinism by Mustafa Tosur MD, George S. Jeha MD

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Tufting enteropathy with EpCAM mutation: case report by Karla Lais Pêgas, Eduardo Cambruzzi, Regis Schander Ferrelli, Carolina Soares da Silva, Renata Rostirola Guedes, Marina Adami, Eduardo Montagner Dias, Melina Utz Melere, Marilia Rosso Ceza, Cintia Steinhaus, Matias Epifanio, Julie Salomon, Cristina Targa Ferreira

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Efficient Gene Editing at Major CFTR Mutation Loci by Jinxue Ruan, Hiroyuki Hirai, Dongshan Yang, Linyuan Ma, Xia Hou, Hong Jiang, Hongguang Wei, Carthic Rajagopalan, Hongmei Mou, Guoshun Wang, Jifeng Zhang, Kui Li, Yuqing E. Chen, Fei Sun, Jie Xu

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Mutation profiles of follicular thyroid tumors by targeted sequencing by Huanli Duan, Xiaoding Liu, Xinyu Ren, Hui Zhang, Huanwen Wu, Zhiyong Liang

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Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms by J Gordon Millichap

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