Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 21 dezembro 2024
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Rubinstein-Taybi Syndrome
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
PDF) Mowat-Wilson Syndrome: Growth Charts
Rubinstein‐Taybi syndrome medical guidelines - Wiley - 2003 - American Journal of Medical Genetics Part A - Wiley Online Library
SIOP 2016 Scientific Programme+Index - 2016 - Pediatric Blood & Cancer - Wiley Online Library
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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