Molecular studies in 10 cases of Rubinstein-Taybi syndrome

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Last updated 28 agosto 2024
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Prediction of an RTI deletion using selected Rubinstein-Taybi syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
IJMS, Free Full-Text
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
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
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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