Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 24 fevereiro 2025
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Rubinstein–Taybi syndrome European Journal of Human Genetics
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Forgotten Diseases Research Foundation
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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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
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
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Rubinstein-Taybi syndrome with scoliosis – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science hub.
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Clinical characteristics of present cohort of patients with
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Rubinstein–Taybi syndrome - Wikipedia
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Psychiatric Profile in Rubinstein-Taybi Syndrome
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
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PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
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