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Last Updated: 10/31/2025

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Found 347 publications

Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.

Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.

Journal: Journal of molecular biology
Published: June 11, 2025

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Journal: The Journal of craniofacial surgery
Published: March 03, 2025

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Journal: Diagnostic pathology
Published: January 06, 2025

Brachydactylia in acrodysostosis.

Brachydactylia in acrodysostosis.

Journal: QJM : monthly journal of the Association of Physicians
Published: November 12, 2024

Brachydactylia in acrodysostosis.

Brachydactylia in acrodysostosis.

Journal: QJM : monthly journal of the Association of Physicians
Published: November 12, 2024

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Journal: Cardiology in the young
Published: October 11, 2024

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children

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

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

Journal: Oxford medical case reports
Published: July 13, 2024

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

Journal: Brain communications
Published: March 08, 2024

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

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

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

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

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.

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
Showing 1-12 of 347

Last Updated: 10/31/2025