Last Updated: 09/26/2026
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Found 22 publications
Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period.
Journal: Molecular genetics and metabolism
Published: April 13, 2026
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes.
Journal: American journal of medical genetics. Part A
Published: July 21, 2025
TPI deficiency: A case report and review of the literature.
Journal: Molecular genetics and metabolism
Published: May 09, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Journal: Orphanet journal of rare diseases
Published: December 23, 2024
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs Syndrome.
Journal: Molecular genetics & genomic medicine
Published: September 15, 2024
Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1.
Journal: Frontiers in pediatrics
Published: May 06, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Journal: Gene
Published: April 04, 2023
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.
Journal: Science translational medicine
Published: March 22, 2023
Genetics in the NICU: Nurses' Perceived Knowledge and Desired Education.
Journal: Journal of continuing education in nursing
Published: January 03, 2023
Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings.
Journal: Journal of orthopaedic case reports
Published: June 19, 2022
Last Updated: 09/26/2026