Results 281 to 290 of about 225,081 (303)

Exome Sequencing and Clinical Diagnosis

JAMA, 2020
Jan M, Friedman, Kenneth Lyons, Jones, John C, Carey   +2 more
openaire   +2 more sources

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  

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Nature Medicine, 2020
Sheng Chih Jin, Weilai Dong, Adam J Kundishora   +2 more
exaly  

Exome Sequencing

2017
Setia Pramana, Qi Bin Kwong, Huey Ying Heng, Nuha Hassim, Ai Ling Ong   +4 more
openaire   +1 more source

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 as a tool for Mendelian disease gene discovery

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

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Science, 2015
Elizabeth T Cirulli, Brittany N Lasseigne, Patrick A Dion   +2 more
exaly  

Using exomes better

European Journal of Human Genetics
openaire   +2 more sources

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science, 2014
Gaia Novarino, Matan Hofree, Amira Masri
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