Last Updated: 09/26/2026
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Found 51 publications
Commentary on Quality Improvement Case Series: "Osteogenesis Imperfecta or Non-accidental Trauma".
Journal: Journal of the Pediatric Orthopaedic Society of North America
Published: August 24, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
Most infants with prenatal osteogenesis imperfecta diagnosis and poor prognosis survive: experience of a quaternary care osteogenesis imperfecta center.
Journal: JBMR plus
Published: October 31, 2024
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study.
Journal: Molecular genetics and metabolism reports
Published: July 12, 2024
High clinical burden of classical homocystinuria in the United States: a retrospective analysis.
Journal: Orphanet journal of rare diseases
Published: May 30, 2024
Hereditary Connective Tissue Diseases and Risk of Post-Acute SARS-CoV-2.
Journal: Viruses
Published: February 06, 2024
Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data.
Journal: Molecular genetics and metabolism reports
Published: January 31, 2024
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Journal: Cold Spring Harbor molecular case studies
Published: September 09, 2023
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Journal: The Journal of clinical investigation
Published: March 08, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: January 26, 2023
Caudamins, a new subclass of protein hormones.
Journal: Trends in endocrinology and metabolism: TEM
Published: August 09, 2021
Last Updated: 09/26/2026