A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harb Mol Case Stud
; 5(2)2019 04.
Article
en En
| MEDLINE
| ID: mdl-30755392
Palabras clave
abnormality of the cerebral vasculature; acute myeloid leukemia; aggressive behavior; ambiguous genitalia, male; aplasia of the thymus; astrocytoma; ataxia; autism; bilateral cryptorchidism; cleft palate; delayed social development; generalized hypotonia due to defect at the neuromuscular junction; generalized tonic seizures; microcephaly; osteosarcoma; retinoblastoma; severe T-cell immunodeficiency; severe global developmental delay; short stature; webbed neck
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastorno del Espectro Autista
/
Secuenciación del Exoma
/
Enfermedades del Sistema Inmune
/
Neoplasias
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos