PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

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Last updated 24 fevereiro 2025
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
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PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
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
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a  cohort of Swedish patients with Rubinstein–Taybi syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

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