Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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Last updated 29 março 2025


Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. - Abstract - Europe PMC

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC

Molecular characteristics of meningiomas

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

PDF) Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC

Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC

Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC

A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC
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