rubinstein taybi omim
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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
14 maio 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
14 maio 2024 -
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
14 maio 2024 -
Chemical and genetic rescue of an ep300 knockdown model for
14 maio 2024 -
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
14 maio 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
14 maio 2024 -
Rubinstein-Taybi Syndrome 1
14 maio 2024 -
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
14 maio 2024 -
Rubinstein-Taybi syndrome: MedlinePlus Genetics
14 maio 2024 -
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
14 maio 2024 -
Genes, Free Full-Text
14 maio 2024 -
Exon deletions of the EP300 and CREBBP genes in two children with
14 maio 2024 -
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
14 maio 2024 -
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
14 maio 2024 -
Rubinstein‐Taybi syndrome in Chinese population with four novel
14 maio 2024 -
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
14 maio 2024 -
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author
14 maio 2024 -
Growth charts for individuals with Rubinstein–Taybi syndrome
14 maio 2024 -
Rubinstein-Taybi syndrome: Dental manifestations and management
14 maio 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo
14 maio 2024