Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Psychiatric Profile in Rubinstein-Taybi Syndrome
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
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
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: MedlinePlus Genetics
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) Neurological Manifestations of Rubinstein-Taybi syndrome: A Case Report
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