rubinstein taybi omim
Mais recente
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Growth charts for individuals with Rubinstein–Taybi syndrome
15 maio 2024 -
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
15 maio 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
15 maio 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
15 maio 2024 -
Exon deletions of the EP300 and CREBBP genes in two children with
15 maio 2024 -
Rubinstein–Taybi syndrome: clinical and molecular overview
15 maio 2024 -
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
15 maio 2024 -
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
15 maio 2024 -
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A
15 maio 2024 -
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
15 maio 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
15 maio 2024 -
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
15 maio 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi
15 maio 2024 -
Forgotten Diseases Research Foundation
15 maio 2024 -
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
15 maio 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
15 maio 2024 -
Rubinstein-Taybi syndrome - wikidoc
15 maio 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
15 maio 2024 -
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
15 maio 2024 -
Rubinstein-Taybi Syndrome
15 maio 2024
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