rubinstein taybi omim
Mais recente
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Rubinstein-Taybi syndrome - wikidoc
15 junho 2024 -
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
15 junho 2024 -
IJMS, Free Full-Text
15 junho 2024 -
Rubinstein-Taybi syndrome: clinical features, genetic basis
15 junho 2024 -
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
15 junho 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
15 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
15 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
15 junho 2024 -
Growth charts for individuals with Rubinstein–Taybi syndrome
15 junho 2024 -
Genes, Free Full-Text
15 junho 2024 -
Forgotten Diseases Research Foundation
15 junho 2024 -
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
15 junho 2024 -
PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
15 junho 2024 -
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
15 junho 2024 -
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
15 junho 2024 -
Rubinstein-Taybi syndrome: Dental manifestations and management
15 junho 2024 -
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
15 junho 2024 -
New insights into genetic variant spectrum and genotype–phenotype
15 junho 2024 -
A novel CREBBP mutation and its phenotype in a case of Rubinstein
15 junho 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo
15 junho 2024
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