Genetics

Metabolomics meets genomics to improve patient diagnosis

A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years. Having an accurate ...

Pediatrics

Pediatrician use of developmental screening tools increasing

(HealthDay)—From 2002 to 2016, there was an increase in pediatricians' reported use of developmental screening tools and in referral of at-risk patients for early intervention (EI), according to a study published online ...

Genetics

Team publishes findings on TAF1 syndrome

An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, Ph.D., of the New York State Office for People With Developmental Disabilities' (OPWDD) ...

Genetics

Genetics researchers find new neurodevelopmental syndrome

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...

page 1 from 13