Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC
Rubinstein-Taybi Syndrome Awareness
Etiology and pathogenesis of the cohesinopathies. - Abstract - Europe PMC
PDF) Rubinstein-Taybi syndrome with agenesis of corpus callosum
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts
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