Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Por um escritor misterioso

Last updated 25 dezembro 2024

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Rubinstein–Taybi syndrome European Journal of Human Genetics

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

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

Rubinstein-Taybi Syndrome: A Case Report

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Psychiatric Profile in Rubinstein-Taybi Syndrome

IJMS, Free Full-Text

Recomendado para você