Results 161 to 170 of about 187,376 (271)

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing. [PDF]

Sci Rep
Ahmad S, Gandapur MS, Jelani M, Muhammad A, Haq IU, Mahsood YJ, Ahmad S, Alonazi WB, Bibi N, Sarwar MT, Khan TA.   +10 more
europepmc   +1 more source

P1.14 Using Whole Exome Sequencing to Identify Genetic Candidates for Carboplatin and Gemcitabine Induced Toxicities

, 2012
Johanna Hasmats, H. Gréen
openalex   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis. [PDF]

Int J Mol Sci
Ozcinar B, Ocak Z, Billur D, Ertugrul B, Timirci-Kahraman O.   +4 more
europepmc   +1 more source

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

, 2012
Menachem Fromer, Jennifer L. Moran, Kimberly Chambert, Eric Banks, Sarah E. Bergen, Douglas M. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, Michael O’Donovan, Michael J. Owen, George Kirov, Patrick F. Sullivan, Christina M. Hultman, Pamela Sklar, Shaun Purcell   +14 more
openalex   +2 more sources

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis [PDF]

, 2014
Kenneth M. Kaufman, Bolan Linghu, Joseph D. Szustakowski, Ammar Husami, Fan Yang, Kejian Zhang, Alexandra H. Filipovich, Ndate Fall, John B. Harley, Nanguneri Nirmala, Alexei A. Grom   +10 more
openalex   +1 more source

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source

Human Migration, Population Divergence, and the Accumulation of Deleterious Alleles: Insights from Private Genetic Variation and Whole-exome Sequencing. [PDF]

, 2012
Zachary A. Szpiech
openalex  

Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

, 2013
Guangwu Guo, Xiaojuan Sun, Chao Chen, Song Wu, Peide Huang, Zesong Li, Michael Dean, Yi Huang, Wenlong Jia, Quan Zhou, Aifa Tang, Zuoquan Yang, Xianxin Li, Pengfei Song, Xiaokun Zhao, Rui Ye, Shiqiang Zhang, Lin Zhao, Mingfu Qi, Shengqing Wan, Liangfu Xie, Fan Fan, Michael L. Nickerson, Xiangjun Zou, Xueda Hu, Xing Li, Zhaojie Lv, Hongbin Mei, Shengjie Gao, Chang Yin Liang, Zhibo Gao, Jingxiao Lu, Yuan Yu, Chunxiao Liu, Lin Li, Xiaodong Fang, Zhimao Jiang, Jie Yang, Cailing Li, Xin Zhao, Jing Chen, Fang Zhang, Yongqi Lai, Zheguang Lin, Fangjian Zhou, Hao Chen, Hsiao Chang Chan, Shirley Tsang, Dan Theodorescu, Yingrui Li, Xiuqing Zhang, Jian Wang, Huanming Yang, Yaoting Gui, Jun Wang, Zhiming Cai   +55 more
openalex   +2 more sources

Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data [PDF]

, 2014
Menachem Fromer, Shaun Purcell
openalex   +1 more source