Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 20 novembro 2024
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Rubinstein-Taybi Syndrome: Behavior
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome Scheduled for Punctoplsty, Iranian Journal of Pediatrics
SciELO - Brasil - Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome, Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Dentocyclopedia - rubinstein taybi syndrome
Rubinstein Taybi Syndrome - MEDizzy
Loving Leanne: Living with Rubinstein-Taybi Syndrome: Roome, Debbie, Ade, Dorothy: 9781481119474: : Books
Intellectual Characteristics
Rubinstein-Taybi Syndrome by Alexandra Wilegus
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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Rubinstein–Taybi syndrome - Wikipedia20 novembro 2024
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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics20 novembro 2024
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PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy20 novembro 2024
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CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library20 novembro 2024
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis20 novembro 2024
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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library20 novembro 2024
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