Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Journal: Genetics in medicine open
Published: April 06, 2024
An Infant with Thickened and Hyperechoic Main Pulmonary Artery.
Journal: NeoReviews
Published: November 30, 2023
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Journal: JPGN reports
Published: April 07, 2022
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.
Journal: Clinical case reports
Published: June 18, 2021
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
Journal: Molecular genetics and metabolism
Published: February 03, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Journal: European journal of human genetics : EJHG
Published: June 28, 2020
Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
Journal: American journal of medical genetics. Part A
Published: May 18, 2020
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Journal: American journal of medical genetics. Part A
Published: July 22, 2019
Evaluation of biomarkers for Sanfilippo syndrome.
Journal: Molecular genetics and metabolism
Published: April 24, 2019
Last Updated: 09/26/2026