Last Updated: 09/26/2026
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Found 44 publications
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Journal: Journal of inherited metabolic disease
Published: April 29, 2026
Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease.
Journal: American journal of medical genetics. Part A
Published: December 15, 2025
Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.
Journal: Journal of health economics and outcomes research
Published: November 14, 2025
Evolution of sleep disordered breathing in infants with achondroplasia.
Journal: Sleep & breathing = Schlaf & Atmung
Published: October 23, 2024
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Journal: Journal of inherited metabolic disease
Published: October 08, 2024
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Journal: Genome medicine
Published: May 16, 2024
Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.
Journal: Cytogenetic and genome research
Published: July 13, 2023
Dermatological concerns for women and girls with turner syndrome.
Journal: Frontiers in medicine
Published: June 05, 2023
Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 25, 2023
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
Journal: Journal of neurosurgery. Pediatrics
Published: February 09, 2023
Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants.
Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants.
Journal: Cytogenetic and genome research
Published: January 12, 2023
Last Updated: 09/26/2026