Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Last updated 19 dezembro 2024
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
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 - Atlas of Human Malformation Syndromes in Diverse Populations
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
PDF) Rubinstein-Taybi syndrome in diverse populations
Rubinstein-Taybi Syndrome 1
PDF) Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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