rubinstein taybi omim
Mais recente
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
17 maio 2024 -
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
17 maio 2024 -
Forgotten Diseases Research Foundation
17 maio 2024 -
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
17 maio 2024 -
Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
17 maio 2024 -
Clinical and molecular findings of the six patients with Rubinstein
17 maio 2024 -
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
17 maio 2024 -
Rubinstein-Taybi syndrome - wikidoc
17 maio 2024 -
Growth charts for individuals with Rubinstein–Taybi syndrome
17 maio 2024 -
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
17 maio 2024 -
New insights into genetic variant spectrum and genotype–phenotype
17 maio 2024 -
Rubinstein‐Taybi syndrome in Chinese population with four novel
17 maio 2024 -
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
17 maio 2024 -
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
17 maio 2024 -
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
17 maio 2024 -
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
17 maio 2024 -
Facial features of Rubinstein-Taybi syndrome
17 maio 2024 -
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
17 maio 2024 -
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
17 maio 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
17 maio 2024
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