Results 181 to 190 of about 174,703 (205)

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

New England Journal of Medicine, 2020
Teresa N Sparks, Ilina D Pluym, Stephan J Sanders   +2 more
exaly  

Exome sequencing as a tool for Mendelian disease gene discovery

Nature Reviews Genetics, 2011
Michael J Bamshad, Holly K Tabor, Jay Shendure   +2 more
exaly  

Whole Exome Sequencing, homozygosity, autozygosity

Journal of Biotechnology, 2014
openaire   +1 more source

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

New England Journal of Medicine, 2013
Yaping Yang, Donna M Muzny, Jeffrey G Reid   +2 more
exaly  

Diagnostic Clinical Genome and Exome Sequencing

New England Journal of Medicine, 2014
Leslie G Biesecker, Robert C Green
exaly  

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Nature, 2020
Cristopher V Van Hout, Claudia Gonzaga-Jauregui, Alexander H Li   +2 more
exaly  

Diagnostic Utility of Exome Sequencing for Kidney Disease

New England Journal of Medicine, 2019
Maddalena Marasa, Slavé Petrovski, Hila Milo-Rasouly   +2 more
exaly  

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Lancet, The, 2019
Jenny Lord, Ruth Y Eberhardt, Rhiannon Mellis   +2 more
exaly  

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Lancet, The, 2019
Slavé Petrovski, Karen Wou, Louise E Bier   +2 more
exaly  

Exome sequencing of Finnish isolates enhances rare-variant association power

Nature, 2019
Adam E Locke, Karyn Meltz Steinberg, Aki S Havulinna   +2 more
exaly