关键词: 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
Mesh : Adolescent Autism Spectrum Disorder / diagnosis genetics Child Child, Preschool Early Diagnosis Female Genetic Predisposition to Disease Humans Immune System Diseases / diagnosis genetics Infant Infant, Newborn Male Neoplasms / diagnosis genetics Sensitivity and Specificity Time Factors Whole Exome Sequencing / methods Workflow Young Adult
来 源:
DOI:10.1101/mcs.a003756
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