Results 201 to 210 of about 178,713 (349)

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

, 2013
Joon‐Ho Yu, Julia M. Crouch, Seema M. Jamal, Holly K. Tabor, Michael J. Bamshad   +4 more
openalex   +1 more source

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies [PDF]

, 2017
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Li Feng, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu   +7 more
openalex   +1 more source

Whole-exome sequencing analysis of amniotic fluid cells in 5 pregnant women with thalassemia: Case report

, 2022
Wei Zhang, Xiaokang Li, Xiaoxia Wu, Xin Huang, Xiao Zhang, Yi Lu, Jianmin Niu, Jian Zhang   +7 more
openalex   +1 more source

Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study. [PDF]

Int J Clin Pediatr Dent
Grace M, Aarthi J, Elangovan A, Chenchugopal M, Gopalakrishnan S.   +4 more
europepmc   +1 more source

Whole-exome sequencing of Finnish hereditary breast cancer families [PDF]

, 2016
Kirsi Määttä, Tommi Rantapero, Anna Lindström, Matti Nykter, Minna Kankuri‐Tammilehto, Satu‐Leena Laasanen, Johanna Schleutker   +6 more
openalex   +1 more source

Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal. [PDF]

Case Rep Hematol
Upadhaya P, Shrestha A.
europepmc   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: Case report and literature review

, 2023
Wei Zhang
openalex   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source