Molecular studies in 10 cases of Rubinstein-Taybi syndrome
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
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.
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Rubinstein-Taybi Syndrome
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
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
IJMS, Free Full-Text
Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
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