Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. - Abstract - Europe PMC
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC
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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
PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC
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Rubinstein-Taybi Syndrome Awareness
Etiology and pathogenesis of the cohesinopathies. - Abstract - Europe PMC
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC
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