Results 141 to 150 of about 174,703 (205)

Whole exome sequencing identified two novel mutations of <i>ACD</i> in Chinese patients with idiopathic pulmonary fibrosis. [PDF]

Front Cell Dev Biol
Cao GH, Yang H, Wang Q, Luo H, Fan LL, Liu L.   +5 more
europepmc   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy. [PDF]

Front Pediatr
Ruan Y, Chen L, Xia S, Lu Q, Wang J, Zhu F, Li N, Du H, Sun D.   +8 more
europepmc   +1 more source

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia. [PDF]

Sci Rep
Abraham N, P PV, Menon U, Bhavani N, Nair V, Futema M, Bhaskaran R, Menon R, Sekhar S, Krishnan S, Kumar H, Nair DR.   +11 more
europepmc   +1 more source

Whole exome sequencing analysis of susceptibility loci in transgender individuals. [PDF]

Sex Med
Liu N, Bai J, Huang N, Xu Y, Long X, Hu X, Wu J, Liu F, Lu Z.   +8 more
europepmc   +1 more source

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction. [PDF]

Diagnostics (Basel)
Luo L, Chen C, Cheung CKY, Li Y, Dai X, Zeng T, Wang Y.   +6 more
europepmc   +1 more source

Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach. [PDF]

Noro Psikiyatr Ars
Gorker I, Atlı E, Bozatlı L, Demir S, Yalcıntepe S, Atlı EI, Kosukcu C, Gurkan H.   +7 more
europepmc   +1 more source

Whole exome sequencing the dog

, 2015
Broeckx, Bart, Hitte, Christophe, Coopman, Frank, Verhoeven, Geert, De Keulenaer, Sarah, De Meester, Ellen, Derrien, Thomas, Alfoldi, Jessica, Lindblad-Toh, Kerstin, Bosmans, Tim, Bavegems, Valérie, Gielen, Ingrid, van Bree, Henri, Van Ryssen, Bernadette, Saunders, Jimmy, Van Nieuwerburgh, Filip, Deforce, Dieter   +16 more
openaire   +1 more source