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Last Updated: 10/31/2025

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Found 243 publications

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Journal: Orphanet journal of rare diseases
Published: September 25, 2024

Slc26a2-mediated sulfate metabolism is important in tooth development.

Slc26a2-mediated sulfate metabolism is important in tooth development.

Journal: Disease models & mechanisms
Published: September 15, 2024

Anesthesia for cesarean section with diastrophic dysplasia

Anesthesia for cesarean section with diastrophic dysplasia

Journal: Die Anaesthesiologie
Published: February 12, 2024

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Journal: Clinical case reports
Published: June 10, 2023

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.

Journal: Balkan journal of medical genetics : BJMG
Published: June 02, 2023

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

Journal: JBMR plus
Published: March 30, 2023

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

Journal: Bone
Published: March 17, 2023

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.

Journal: Frontiers in genetics
Published: March 17, 2023

Recommendations for dental management of diastrophic dysplasia: a rare case report.

Recommendations for dental management of diastrophic dysplasia: a rare case report.

Journal: European review for medical and pharmacological sciences
Published: February 22, 2023

Dysplasias in the Child's Spine.

Dysplasias in the Child's Spine.

Journal: Neurosurgery clinics of North America
Published: September 17, 2022

Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three- dimensional ultrasonographic findings

Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three- dimensional ultrasonographic findings

Journal: Turkish journal of obstetrics and gynecology
Published: September 28, 2021

Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report.

Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report.

Journal: Journal of orthopaedic case reports
Published: June 18, 2021
Showing 1-12 of 243

Last Updated: 10/31/2025