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

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Last updated 10 novembro 2024

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - 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

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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

PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

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

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

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

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