Results 71 to 80 of about 128,279 (119)

Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing. [PDF]

Neurogenetics
Najarzadeh Torbati P, Boostani R, Safi M, Ahangari N, Doosti M, Badpar H, Beiraghi Toosi M, Ghayoor Karimiani E, Vona B.   +8 more
europepmc   +1 more source

The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review. [PDF]

J Genet Couns
Albu M, Ciucă A, Moldovan R.
europepmc   +1 more source

Correction to "Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies". [PDF]

Prenat Diagn
europepmc   +1 more source

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders. [PDF]

iScience
Díaz-de Usera A, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Guillen-Guio B, Jáspez D, Corrales A, Marcelino-Rodríguez I, Rodríguez-Pérez MDC, Cabrera-de León A, González-Montelongo R, Cruz-Guerrero R, Carracedo Á, Flores C.   +13 more
europepmc   +1 more source

Whole-Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia. [PDF]

Mol Genet Genomic Med
Xie QL, Wang Q, Liu Y, Huang T, Li J.
europepmc   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing. [PDF]

Prenat Diagn
Albert S, Swenerton A, Niles KM, Langlois S, Zambonin JL.   +4 more
europepmc   +1 more source

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing. [PDF]

Genes (Basel)
Theodosiou A, Kousoulidou L, Papaevripidou I, Aristidou C, Alexandrou A, Hadjipanteli A, Votsi C, Tomazou M, Menelaou S, Efstathiou D, Ioannou Y, Athanasiou E, Papamichael E, Christophidou-Anastasiadou V, Ourani S, Evangelidou P, Tanteles GA, Sismani C.   +17 more
europepmc   +1 more source