Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 20 publications
Segmental Agenesis of the Corpus Callosum With Pituitary Hypoplasia.
Journal: Cureus
Published: April 21, 2024
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial.
Journal: Genome medicine
Published: August 17, 2023
Acute Abdominal Pain and Constipation in 8-Year-Old Girl.
Journal: Pediatrics in review
Published: April 13, 2023
High sensitivity methods for automated rib fracture detection in pediatric radiographs.
Journal: Scientific reports
Published: April 10, 2023
Association of Abnormal Findings on Neonatal Cranial Ultrasound With Neurobehavior at Neonatal Intensive Care Unit Discharge in Infants Born Before 30 Weeks' Gestation.
Journal: JAMA network open
Published: April 08, 2022
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: November 05, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: April 06, 2021
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
Journal: eLife
Published: January 31, 2021
A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
Journal: Clinical dysmorphology
Published: July 24, 2020
Pediatric cervical spine injuries on CT: difference in accuracy of interpretations by pediatric versus non-pediatric radiologists.
Journal: Emergency radiology
Published: June 17, 2019
Last Updated: 09/26/2026