Results 151 to 160 of about 215,208 (174)

Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing. [PDF]

Int J Mol Sci
Moon Y, Hong CH, Kim YH, Kim JK, Ye SH, Kang EK, Choi HW, Cho H, Choi H, Lee DE, Choi Y, Kim TM, Heo SG, Han N, Hong KM.   +14 more
europepmc   +1 more source

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer. [PDF]

J Ovarian Res
Chiang YC, Huang HN, Kuo KT, Hwu WL, Lin PH.   +4 more
europepmc   +1 more source

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

, 2012
Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde   +11 more
openalex   +1 more source

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. [PDF]

Diagnostics (Basel)
Fang HH, Lee CL, Chen HJ, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP.   +9 more
europepmc   +1 more source

Exome sequencing in 90 children with developmental delay: a single-center experience. [PDF]

Front Genet
Boyarchuk O, Volianska L, Smashna O, Makukh H.   +3 more
europepmc   +1 more source

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses. [PDF]

Prenat Diagn
Levy M, Lifshitz S, Goldenberg-Fumanov M, Bazak L, Goldstein RJ, Hamiel U, Berger R, Lipitz S, Maya I, Shohat M.   +9 more
europepmc   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. [PDF]

PLoS One
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M.   +23 more
europepmc   +1 more source

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders. [PDF]

BMC Genomics
Qin Y, Senglong M, Touch K, Xiao J, Fang R, Kang Q, Fan L, Li S, Liu J, Wu J, Wu Y, Shi X, Liu H, Gong X, Lin X, Feng L, Chen S, Li W.   +17 more
europepmc   +1 more source