rubinstein taybi omim
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Main clinical findings of the 16 Brazilian patients with
03 junho 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
03 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping
03 junho 2024 -
IJMS, Free Full-Text
03 junho 2024 -
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
03 junho 2024 -
Genes involved in histone acetylation known to cause rare diseases
03 junho 2024 -
Forgotten Diseases Research Foundation
03 junho 2024 -
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
03 junho 2024 -
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
03 junho 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
03 junho 2024 -
Rubinstein–Taybi syndrome: clinical and molecular overview
03 junho 2024 -
Mosaic CREBBP mutation causes overlapping clinical features of
03 junho 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo
03 junho 2024 -
Growth charts for individuals with Rubinstein–Taybi syndrome
03 junho 2024 -
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
03 junho 2024 -
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
03 junho 2024 -
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
03 junho 2024 -
Rubinstein-Taybi syndrome: MedlinePlus Genetics
03 junho 2024 -
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
03 junho 2024 -
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
03 junho 2024
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