Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Por um escritor misterioso
Last updated 22 abril 2025


Genes, Free Full-Text
Formaldehyde, Epigenetics, and Alzheimer's Disease

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Genes, Free Full-Text

PDF) Rubinstein-Taybi syndrome medical guidelines

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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