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Last Updated: 01/07/2026

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Found 710 publications

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome.

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome.

Journal: Indian journal of dermatology
Published: November 20, 2025

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Journal: Journal of developmental and behavioral pediatrics : JDBP
Published: November 12, 2025

Chronic Dacryocystitis With Elevated IgG4-Plasma Cells in a Patient With Rubinstein-Taybi Syndrome: An IgG4-Related Disease?

Chronic Dacryocystitis With Elevated IgG4-Plasma Cells in a Patient With Rubinstein-Taybi Syndrome: An IgG4-Related Disease?

Journal: Ophthalmic plastic and reconstructive surgery
Published: September 23, 2025

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Journal: Frontiers in genetics
Published: August 22, 2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Journal: Genes
Published: August 20, 2025

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome.

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome.

Journal: International journal of molecular sciences
Published: August 19, 2025

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

Journal: Human genome variation
Published: August 14, 2025

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Journal: Prenatal diagnosis
Published: July 09, 2025

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Journal: Genes
Published: June 23, 2025

The complex network of p300/CBP regulation: Interactions, posttranslational modifications, and therapeutic implications.

The complex network of p300/CBP regulation: Interactions, posttranslational modifications, and therapeutic implications.

Journal: The Journal of biological chemistry
Published: June 06, 2025

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

Journal: Molecular syndromology
Published: May 31, 2025

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Journal: Gene
Published: April 25, 2025
Showing 1-12 of 710

Last Updated: 01/07/2026