Tag: genetics

1. In this cross-sectional study, nearly half of the infants with congenital diarrhea and enteropathies (CODEs) had identifiable causal variants, ...

1. In this prospective cohort study, genetic screening among Australian reproductive couples was widely accepted and associated with low decisional ...

1. Three unrelated children were found to have a de novo deletion in the long non-coding RNA (lncRNA) CHASERR, which ...

The Scan by 2 Minute Medicine® is a pop-culture medical newsletter and exclusive benefit for 2 Minute Medicine Plus subscribers. ...

1. In this randomized controlled trial, brigatinib reduced the size of progressively growing tumors in patients with neurofibromatosis type 2-related ...

A patient who received TSHA-102 had durable improvements in motor skills, communication, and socialization. TSHA-102 was well tolerated with no ...

1. In this randomized controlled trial, among patients with centrosomal protein 290 (CEP290)-associated retinal degeneration, subretinal injection of EDIT-101 resulted ...

1. In this cohort study of families with suspected Mendelian disorders for whom preliminary genetic testing had not revealed a ...

1. The risk of developing the same or any mental health disorder was increased in offspring of parents with a ...

Increased Mortality From COVID-19 In Severe Mental Illness Patients With Comorbidities and Those of Black Race 1. There was higher ...