Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants
Article in Journal of Clinical Research in Pediatric Endocrinology (January 2024)
The most recent citing publications are shown below. View all 23 publications that cite this research output on Dimensions.
General Anesthesia in Schwartz-Jampel Syndrome: A Case Report
Article in Anesthesiology and Pain Medicine (March 2023)
Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles
Article in Biomedicines (March 2023)