Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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Clinical exome sequencing identifies novel CREBBP variants in 18
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids
Rubinstein-Taybi Syndrome
Oliver BARTSCH, Medical Doctor, Professor
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Insights into genotype–phenotype correlations from CREBBP point
PDF) Identification of a novel de novo mutation of CREBBP in a
Two adults with Rubinstein–Taybi syndrome with mild mental
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome
Mosaic CREBBP mutation causes overlapping clinical features of
Clinical exome sequencing identifies novel CREBBP variants in 18
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A novel CREBBP mutation and its phenotype in a case of Rubinstein
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