Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports
The pathophysiology of BBS is thought to be caused by or involve at least 28 distinct genes. The…
Association of polymorphisms and abnormal methylation of several autophagy genes with pulmonary tuberculosis susceptibility, clinical manifestations in a Chinese population | BMC Infectious Diseases
World Health Organization. Global tuberculosis report 2021. https://www.who.int/publications/digital/global-tuberculosis-report-2021. Carabalí-Isajar ML, Rodríguez-Bejarano OH, Amado T, Patarroyo MA, Izquierdo MA,…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports
Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…
Genetic and oncogenic features of RASGRF fusions
Prevalence of RASGRF fusions in solid tumor malignancies We previously reported three RASGRF1 fusions: (1) an OCLN–RASGRF1 fusion…
What does a migraine aura look like?—A systematic review | The Journal of Headache and Pain
This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)…
Research Project Studies High Doses of an Opioid Use Disorder Medication Among Veterans
Anne Black, PhD Credit: Yale A team of researchers at Yale School of Medicine (YSM) is helping determine…