Results 131 to 140 of about 174,703 (205)

Whole-exome sequencing for clinical diagnostics [PDF]

Nature Reviews Genetics, 2016
openaire   +1 more source

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders. [PDF]

BMC Med Genomics
Han C, Wu S, Yang Y, Yang X, Li H.
europepmc   +1 more source

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing. [PDF]

Ophthalmol Sci
Wang Z, Chen C, Wu Y, Nagata Y, Tanaka T, Xie S, Lu H, Wang Y, Xiong J, Zhang L, Kamoi K, Ohno-Matsui K.   +11 more
europepmc   +1 more source

Whole exome sequencing of 20 patients with pulmonary hypertension caused by fibrosing mediastinitis. [PDF]

Chin Med J (Engl)
Li B, Liu S, Zhang J, Song J, Su H, Li Y, Tang A, Zhao Y, Gao T, Liu H, Zhang M, Zhang Y, Cao Y.   +12 more
europepmc   +1 more source

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children. [PDF]

Int J Mol Sci
Mancuso G, Serventi L, Cocco C, Lai F, Soddu C, Marica M, Mereu C, Lorrai M, Tosone GM, Cannas F, Nutile G, Floris M, Savasta S, Giglio S.   +13 more
europepmc   +1 more source

Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing. [PDF]

Addict Biol
Liu L, Zhang B, Dong Y, Liu LP, Wang JY, Liu J, Zhou GY, Kang CY, Hu X, Cheng C, Zhao N, Lu J, Wang H, Hu J, Wang X.   +14 more
europepmc   +1 more source

Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder. [PDF]

Appl Clin Genet
Górecki M, Jaszczuk I, Lejman M.
europepmc   +1 more source

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +1 more source