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

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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
CBP Is Required for Establishing Adaptive Gene Programs in the Adult Mouse Brain. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Molecular characteristics of meningiomas
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - 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
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - 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 Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
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
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - 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
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
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