Results 211 to 220 of about 122,559 (261)

Screening for genetic kidney diseases in a dialysis cohort via exome sequencing. [PDF]

Clin Kidney J
Liu ZY, Zhang YL, Li Y, Han JF, Song ZR, Zhang JY, Qu TH, Xu R, Zhang H, Chen XL, Zhou XJ.   +10 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

Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure. [PDF]

F S Rep
Tjagur S, Punab M, Dutta A, Laan M.
europepmc   +1 more source

Clinical exome sequencing—Mistakes and caveats [PDF]

Human Mutation, 2022
Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology.
Erik-Jan Kamsteeg, Rolph Pfundt, Sanne Smeekens   +2 more
exaly   +3 more sources