Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
Por um escritor misterioso
Last updated 20 fevereiro 2025
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Opposing Effects of CREBBP Mutations Govern the Phenotype of
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PDF) Novel Function of the Transactivation Domain of a Pituitary
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Genes, Free Full-Text
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A case of Rubinstein-Taybi Syndrome with a CREB-binding protein
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PDF) An unusual presentation of Rubinstein-Taybi Syndrome with
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Molecular analysis of the CBP gene in 60 patients with Rubinstein
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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Genetic dissection of Chiari malformation type 1 using
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Characterization of 14 novel deletions underlying Rubinstein–Taybi
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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Frontiers Case report: A preterm infant with rubinstein-taybi
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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