CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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Last updated 21 dezembro 2024
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
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CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome and Epigenetic Alterations
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

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