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Last Updated: 10/31/2025
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Found 194 publications
Strategies for Improving Case Reports Involving Patients With Rare Diseases.
Journal: Cureus
Published: February 28, 2025
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 20, 2024
UNC-45 assisted myosin folding depends on a conserved FX3HY motif implicated in Freeman Sheldon Syndrome.
Journal: Nature communications
Published: October 24, 2023
Comment on: anesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report.
Journal: JA clinical reports
Published: October 14, 2023
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
Journal: Prenatal diagnosis
Published: August 04, 2023
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Journal: Clinical genetics
Published: July 04, 2023
Anesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report.
Journal: JA clinical reports
Published: May 03, 2023
Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report
Journal: Revista colombiana de obstetricia y ginecologia
Published: March 20, 2023
Reply Re: "Periocular Anomalies in Freeman-Sheldon Syndrome".
Journal: Ophthalmic plastic and reconstructive surgery
Published: November 03, 2022
Re: "Periocular Anomalies in Freeman-Sheldon Syndrome".
Journal: Ophthalmic plastic and reconstructive surgery
Published: November 03, 2022
Periocular Anomalies in Freeman-Sheldon Syndrome.
Journal: Ophthalmic plastic and reconstructive surgery
Published: June 03, 2022
Last Updated: 10/31/2025