Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein– Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks - Negri - 2016 - Human Mutation - Wiley Online Library
Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: A case report
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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