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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PDF) Molecular studies in 10 cases of Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct
Insights into genotype–phenotype correlations from CREBBP point
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations
IJMS, Free Full-Text
Oliver BARTSCH, Medical Doctor, Professor
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the
PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome
IJMS, Free Full-Text
Opposing Effects of CREBBP Mutations Govern the Phenotype of
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein-Taybi Syndrome
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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