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Last Updated: 01/07/2026
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Found 179 publications
The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.
Journal: Journal of child psychology and psychiatry, and allied disciplines
Published: August 13, 2025
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.
Journal: Neurogenetics
Published: January 30, 2025
Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.
Journal: Diagnostic pathology
Published: January 06, 2025
Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.
Journal: Frontiers in pediatrics
Published: November 25, 2024
International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
Journal: American journal of medical genetics. Part A
Published: November 11, 2024
Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: September 27, 2024
Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
Journal: Human molecular genetics
Published: February 27, 2024
Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.
Journal: Cureus
Published: February 13, 2024
Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
Journal: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews
Published: January 05, 2024
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Journal: BMC pediatrics
Published: November 01, 2023
Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.
Journal: International journal of molecular sciences
Published: October 13, 2023
A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland.
Journal: Human pathology
Published: October 09, 2023
Last Updated: 01/07/2026