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Last Updated: 06/27/2025
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Found 215 publications
Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.
Journal: ACS chemical biology
Published: May 06, 2025
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Journal: European journal of pediatrics
Published: October 07, 2024
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Journal: Pediatric radiology
Published: August 01, 2024
Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Journal: Journal of pediatric genetics
Published: July 12, 2024
Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia.
Journal: Cellular and molecular life sciences : CMLS
Published: June 10, 2024
CT Scan Data Analysis in Malformations of Cortical Development.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: April 17, 2024
Fibronectin isoforms promote postnatal skeletal development.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: April 11, 2024
Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD.
Journal: Journal of clinical immunology
Published: January 17, 2024
Last Updated: 06/27/2025