Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 17 publications
Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.
Journal: Medicine
Published: August 05, 2025
Fatal Firearm Violence and Previous Interactions With the Pediatric Health Care System.
Journal: Pediatric emergency care
Published: June 20, 2025
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Journal: Journal of the American Heart Association
Published: January 31, 2024
Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.
Journal: Journal of neurodevelopmental disorders
Published: April 06, 2023
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.
Journal: Orphanet journal of rare diseases
Published: June 23, 2020
Health Care Supervision for Children With Williams Syndrome.
Journal: Pediatrics
Published: January 23, 2020
Williams-Beuren syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: December 18, 2017
Nine year old boy with chromosome 1q23.3-q25.1 deletion.
Journal: American journal of medical genetics. Part A
Published: December 28, 2015
7q11.23 Duplication syndrome: Physical characteristics and natural history.
Journal: American journal of medical genetics. Part A
Published: June 04, 2015
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.
Journal: American journal of human genetics
Published: March 10, 2015
Last Updated: 09/26/2026