Results 231 to 240 of about 178,485 (305)

Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation. [PDF]

Genes (Basel)
Gcobo T, Katsukunya JN, Lamola L, Awany D, Ndadza A, Dandara C, Mnika K.   +6 more
europepmc   +1 more source

Whole-exome sequencing of FFPE samples reveals mutations associated with Luminal A breast cancer recurrence. [PDF]

BMC Biotechnol
Lv K, Chen Y, Zhou J, Ji F, Hu W.
europepmc   +1 more source

Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients

, 2014
Wenbin Wei, Hailong He, Chih-leu CHEN, Yuhua Zhao, Huling Jiang, W.-T. Liu, Zhenfang Du, Xiaoli Chen, Shaohan Shi, X.N. Zhang   +9 more
openalex   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma. [PDF]

Curr Issues Mol Biol
Trang PTH, Trang DT, Huong PT, Nhat PV, Sopjani M, Giang NH, Canh NX, Giang NV, Nam NT, Vuong NB, Binh VD, Xuan NT.   +11 more
europepmc   +1 more source

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

, 2013
Hee‐Jin Kim, Hong‐Hee Won, Kyoung‐Jin Park, Sung Hwa Hong, Chang‐Seok Ki, Sang Sun Cho, Hanka Venselaar, Gert Vriend, Jong‐Won Kim   +8 more
openalex   +2 more sources

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]

, 2016
et al,, Grange, Dorothy K
core   +1 more source

Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]

Int J Med Sci
Luo F, Jiang L, Pan Y, Li H, Tan J, Wu C, Liu Q.   +6 more
europepmc   +1 more source

Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family

Yusuf Khan, Mohammed Imad A. Mustafa Mahmud, Norzila Othman, Hazulin Mohd Radzuan, SALMAN ABDUL BASIT   +4 more
openalex   +2 more sources