Results 111 to 120 of about 174,703 (205)

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma. [PDF]

Ann Hematol
Chen X, Xie L, Wu W, Jiang M, Cui Y, Zou L.   +5 more
europepmc   +1 more source

GermVarX: A Robust Workflow for Joint Germline Variant Exploration in whole-exome sequencing cohorts. [PDF]

PLoS One
Nguyen TTP, Nguyen DD, Mai TV, Nguyen DK, Nguyen TD, Truong NTM, Ha HH, Tran TTH.   +7 more
europepmc   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Whole exome sequencing και υπογονιμότητα

Infertility is a complex condition that affects millions of people worldwide. Of particular importance is the fact that genetic factors appear to play an important role. The present study aims to examine the clinical utility of the Whole Exome Sequencing (WES) method for diagnosing genetic causes of infertility, as well as whether this technique can ...
openaire   +1 more source

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report. [PDF]

Transl Pediatr
Guo W, Wang H, Ling S, Liu T, Wang M, Zhang Y.   +5 more
europepmc   +1 more source

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
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

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. [PDF]

World J Hepatol
Yodoshi T.
europepmc   +1 more source